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MedWorm: Apert Syndrome



MedWorm.com provides a medical RSS filtering service. Over 7000 RSS medical sources are combined and output via different filters. This feed contains the latest news and research in the Apert Syndrome category.



Last Build Date: Tue, 22 Mar 2016 08:28:41 +0100

 



[Correction of the Thumb in Apert Syndrome - Modified Dome Osteotomy and Bilobed Flap].

Sun, 21 Feb 2016 18:11:01 +0100

This article describes the surgical technique and the results in 6 hands of 3 children. The aim is to illustrate the correction of the axis and length of the thumb. PMID: 26895515 [PubMed - in process] (Source: Handchirurgie Mikrochirurgie Plastische Chirurgie)

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Perifascial areolar tissue grafting for treating syndactyly with bone fusion in patients with Apert syndrome.

Thu, 18 Feb 2016 04:08:02 +0100

Authors: Miyanaga T, Shimada K, Kishibe M, Daizo H, Komuro A Abstract Complete syndactyly with bone fusion in patients with Apert syndrome was treated using perifascial areolar tissue (PAT) grafts via a two-stage surgery (i.e. bone separation using inter-bone PAT graft insertion followed by web separation and reconstruction with full-thickness skin grafts). This technique is easy and created nail folds for fingertips. PMID: 26365357 [PubMed - in process] (Source: Journal of Plastic Surgery and Hand Surgery)



The testicle timebomb warning: Older fathers 'are more likely to have mutant sperm...and children with genetic diseases'

Mon, 08 Feb 2016 20:03:30 +0100

As a man ages, the risk of conditions such as Apert syndrome, which affects skull and limb development, and dwarfism increases, Oxford University researchers found. (Source: the Mail online | Health)



Transmaxillary Sinus Approach for Le Fort II Osteotomy

Mon, 01 Feb 2016 06:00:00 +0100

This report illustrates this easy-to-use procedure for the Le Fort II osteotomy in syndromic craniosynostosis. This procedure was performed in an 18-year-old patient with Apert syndrome and a 15-year-old patient with Pfeiffer syndrome. The thin anterior walls of the MS were removed through an intraoral approach to look inside the MS. Then, the posterior walls were cut by chisel under direct vision using light. The other osteotomy was performed as usual. Distraction osteogenesis with internal and external devices was used in combination. The advantages of TSA are the direct posterior wall osteotomy of the MS with no down fracture and minimal invasiveness to the mucosa of the MS under direct vision. However, the disadvantage is that TSA becomes a blind procedure in a case with no MS or hypop...



First Vault Expansion in Apert and Crouzon-Pfeiffer Syndromes: Front or Back?

Fri, 01 Jan 2016 06:00:00 +0100

Conclusions: The authors’ preference for occipital expansion as the initial craniofacial procedure in Apert and Crouzon-Pfeiffer syndromes is supported by the greater increase it produces in intracranial volume (as evidenced by the occipitofrontal head circumference), which reduces the incidences of tonsillar herniation and papilledema. CLINICAL QUESTION/LEVEL OF EVIDENCE: Therapeutic, III. (Source: Plastic and Reconstructive Surgery)



Management of the Airway in Apert Syndrome

Fri, 01 Jan 2016 06:00:00 +0100

Abstract: The management of the airway in Apert syndrome is complex and multidisciplinary. This rare syndrome, occurring in up to approximately 1 in 65,000 live births, results in airway compromise at various anatomic levels, in addition to abnormal central respiratory drive. Obstructive apneas arise because of decreased airway caliber, which may occur in the form of congenital bony nasal stenosis, choanal atresia, a deviated nasal septum, a narrowed nasopharynx, a thick long soft palate, lateral palatal swellings, and a tracheal cartilage sleeve. Central apneas in Apert syndrome arise because of raised intracranial pressure and/or Chiari malformations. The purpose of this study was to investigate our treatment methods and outcomes in optimizing the airway in this complex, rare and interes...

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Alternative Methods for Nasotracheal Intubation and Extubation in a Patient With Apert Syndrome.

Tue, 01 Dec 2015 21:07:16 +0100

Authors: Tsukamoto M, Yokoyama T Abstract Apert syndrome is a rare autosomal dominant disorder characterized by craniofacial abnormalities, craniosynostosis and syndactyly. Nasotracheal intubation for a patient with Apert syndrome can be a challenge because of abnormal facial anatomy. We experienced the anesthetic management of a patient with Apert syndrome who underwent partial resection of mandible and cleft palate repair with nasotracheal intubation. Nasotracheal intubation using a gastric tube and extubation using an airway exchange catheter proved useful in this case of airway compromise. PMID: 26398130 [PubMed - in process] (Source: Anesthesia Progress)



Apert syndrome: the need for surgical guidelines in the United Kingdom

Tue, 01 Dec 2015 00:00:00 +0100

Introduction/aims: Apert syndrome is a craniosynostosis syndrome characterised by early skull suture fusion, fusion of the fingers and a sunken facial appearance. (Source: The British Journal of Oral and Maxillofacial Surgery)



Effects of FGFR Signaling on Cell Proliferation and Differentiation of Apert Dental Cells

Fri, 27 Nov 2015 21:32:19 +0100

This study provides novel insights on FGFR signaling and a common Apert FGFR2 mutation in the regulation of odontogenic differentiation of dental mesenchymal and epithelial cells.Cells Tissues Organs (Source: Cells Tissues Organs)



Orbital Dysmorphology in Untreated Children with Crouzon and Apert Syndromes

Fri, 30 Oct 2015 08:05:12 +0100

Conclusions: A shortened bony orbit, decreased orbital and orbital soft-tissue volumes, and an increased volume of the globe were found in both conditions. Despite normal volume of the overall orbital contents, the contents are altered, and the bony orbit is shorter and holds less volume. (Source: Plastic and Reconstructive Surgery)



Application of C-Shaped Osteotomy and Distraction Osteogenesis for Correction of Radial Angulation Deformities of the Hand in Children With Apert Syndrome: Review of 10 Years of Experience

Thu, 15 Oct 2015 01:15:20 +0100

Abstract: Apert syndrome is characterized by short, radially deviated thumbs, leading to difficulties in daily life such as holding a fork or a spoon and buttoning up. The main goal of surgery is to achieve thumb to index finger pinch to overcome these difficulties. Seven patients (14 extremities) followed up with Apert syndrome underwent distraction after a C-shaped osteotomy to simultaneously correct the brachydactyly and the angulation deformity of the bilateral thumbs. The patients ranged in age from 4 to 7 years at the distraction operation, with a mean (SD) of 4.7 (1.7) years, and the mean (SD) length of follow-up was 100.6 (14.95) months. The mean (SD) length of the phalanges at the beginning of distraction was 19.1 (3.26) mm, and the mean (SD) length of the distracted phalanx at lo...

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Anesthetic management of craniosynostosis repair in patient with Apert syndrome: Erratum

Wed, 16 Sep 2015 00:00:00 +0100

Saudi Journal of Anaesthesia 2015 9(4):496-496 (Source: Saudi Journal of Anaesthesia)



Perifascial areolar tissue grafting for treating syndactyly with bone fusion in patients with Apert syndrome

Mon, 17 Aug 2015 12:24:08 +0100

Journal of Plastic Surgery and Hand Surgery, Ahead of Print. (Source: Journal of Plastic Surgery and Hand Surgery)



Taurodontism: An Atypical Dental Phenotype in Apert Syndrome

Sat, 11 Jul 2015 19:16:29 +0100

Taurodontism is a dysgenesis of the molars, characterized by increased occlusal-apical dimension in the pulp chamber, explained by genetic disorder or atavism. It can be an isolated finding or associated with other dental anomalies and syndromes. In a 12-year-old dark-skinned female, clinical and radiographic examinations revealed acrobrachycephaly; syndactyly; maxillary retrusion; anterior open bite; posterior crossbite; Byzantine-arch palate; multiple dental anomalies of position (maxillary dental crowding and dental rotation) and shape (pronounced enamel bridge in lateral incisors and taurodontism in all second molar teeth); and bilateral elongation of the styloid process. (Source: Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics)



What Life Is Like With A Disfigured Face

Fri, 26 Jun 2015 12:25:36 +0100

(Photo: © Anthony Gerace) In a world obsessed with beauty, living with a facial disfigurement can be hard. Neil Steinberg explores the past and present to find out what it’s like to look different.“Take your ear off for me, please,” Rosie Seelaus says to Randy James, who is sitting on a black exam chair in a special room designed for viewing colors in the Craniofacial Center on the Near West Side of Chicago.He reaches up and detaches his right ear, which she created for him out of silicone seven years before. The ear is shabby, stained from skin oil and mottled by daily use. Viewed under various lights in the neutral, grey-walled room – daylight, incandescent, fluorescent – it remains a pasty beige.James is a doctor with the Department of Veterans Affairs in Las Vegas – the f...



A third report of Apert syndrome in association with diaphragmatic hernia

Sat, 06 Jun 2015 16:42:13 +0100

No abstract available (Source: Clinical Dysmorphology)

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Globe Protrusion and Interorbital Divergence in Syndromic Faciocraniosynostoses

Mon, 01 Jun 2015 05:00:00 +0100

Conclusions: In syndromic faciocraniosynostoses, GP is highly correlated with the interorbital angle. The increment in the interorbital angle is a natural geometric consequence of the fact that a decrease in the orbital depth is not adequately compensated by an increase in the distance between the lateral orbit rims. (Source: Journal of Craniofacial Surgery)



He had a frame drilled into his head and his skull cracked open: Now, after more than 50 operations, brave Billy has a new face after battling rare illness

Sat, 18 Apr 2015 18:54:41 +0100

Seven-year-old Billy Mitchell, from Hertfordshire, was born with Apert syndrome, a rare condition that causes malformations of the skull, face, hands and feet. (Source: the Mail online | Health)



Molding of Top Skull in the Treatment of Apert Syndrome

Sun, 01 Mar 2015 06:00:00 +0100

We describe 3 patients molded top skull after front bone osteotomy orbital bar advancement. This successfully restricted growth of their top skull while allowing growth in other dimensions. Utilization of top-skull molding after cranial surgery shows promise of satisfaction in this setting. (Source: Journal of Craniofacial Surgery)



Complications in 54 Frontofacial Distraction Procedures in Patients With Syndromic Craniosynostosis

Thu, 01 Jan 2015 06:00:00 +0100

This study compares the perioperative complications between semiburied- and halo-type distraction osteogenesis of the midface. A retrospective review was performed on all patients with syndromic craniosynostosis who underwent midface distraction with semiburied- or halo-type external distractors. Demographic information and operative/postoperative course were reviewed. Complications were categorized as hardware-related, infectious, and either as major (requiring additional intervention) or minor (requiring medication only). Chi-squared and Fisher exact test were used to compare variables.From 1999 to 2012, a total of 54 patients underwent midface distraction osteogenesis, including 23 patients with Apert syndrome, 19 patients with Crouzon syndrome, 10 patients with Pfeiffer syndrome, and 2...



Apert syndrome: Anaesthetic concerns and challenges

Sun, 02 Nov 2014 00:00:00 +0100

Publication date: Available online 18 October 2014 Source:Egyptian Journal of Anaesthesia Author(s): Teena Bansal , Rajmala Jaiswal , Sarla Hooda , Pardeep Mangla Apert syndrome is a congenital autosomal dominant disease characterized by brachycephaly, craniosynotosis, midface hypoplasia, hypertelorism, choanal stenosis, multidigit hand and foot syndactyly. Anaesthetic management of a child with Apert syndrome poses a great challenge to anaesthesiologist. The child should be evaluated thoroughly by history, examination and investigations for associated anamolies and managed accordingly. There is no definite recommendation for general or regional anaesthesia and also there are no known contraindications to specific anaesthetic agent and drug. However, whenever possible, regional anaesthes...

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Blaschko‐linear acne on preexistent hypomelanosis reflecting a mosaic FGFR2 mutation

Tue, 28 Oct 2014 00:00:00 +0100

This article is protected by copyright. All rights reserved. (Source: British Journal of Dermatology)



Blaschko-linear acne on preexistent hypomelanosis reflecting a mosaic FGFR2 mutation.

Tue, 28 Oct 2014 00:00:00 +0100

This article is protected by copyright. All rights reserved. PMID: 25350236 [PubMed - as supplied by publisher] (Source: The British Journal of Dermatology)



Methylenetetrahydrofolate reductase C677T variant in Indian children with craniosynostosis: Its role in the pathogenesis, risk of craniosynostosis

Tue, 14 Oct 2014 00:00:00 +0100

Conclusion: C667T polymorphism of the MTHFR gene is unlikely to play a role in the pathogenesis of craniosynostosis though maternal MTHFR C677T polymorphism may be a genetic risk factor. (Source: Indian Journal of Human Genetics)



Enhanced Fitness of Adult Spermatogonial Stem Cells Bearing a Paternal Age-Associated FGFR2 Mutation

Sun, 12 Oct 2014 00:00:00 +0100

Publication date: 12 August 2014 Source:Stem Cell Reports, Volume 3, Issue 2 Author(s): Laura A. Martin , Nicholas Assif , Moses Gilbert , Dinali Wijewarnasuriya , Marco Seandel Pathogenic de novo mutations increase with fathers’ age and could be amplified through competition between genetically distinct subpopulations of spermatogonial stem cells (SSCs). Here, we tested the fitness of SSCs bearing wild-type human FGFR2 or an Apert syndrome mutant, FGFR2 (S252W), to provide experimental evidence for SSC competition. The S252W allele conferred enhanced FGFR2-mediated signaling, particularly at very low concentrations of ligand, and also subtle changes in gene expression. Mutant SSCs exhibited improved competitiveness in vitro and increased stem cell activity in vivo upon transplantat...



Apert Syndrome: temporal lobe abnormalities on fetal brain imaging

Wed, 01 Oct 2014 00:00:00 +0100

ConclusionOverexpansion and overconvolution of the temporal lobe is evident antenatally and is particularly conspicuous in the fetus when the normal brain is still relatively smooth (approximately 24 to 28 weeks of gestation). This article is protected by copyright. All rights reserved. (Source: Prenatal Diagnosis)

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Trading my patient ID bracelet for an employee ID badge

Mon, 29 Sep 2014 17:00:16 +0100

Honoring Craniofacial Acceptance Month and one young man’s quest to give back By Torrence Chrisman Torrence Chrisman, 24, is a history major at the University of Massachusetts Boston. At birth, Torrence was diagnosed with Apert syndrome, a rare genetic birth disorder involving abnormal growth of the skull and the face, fingers and toes. Read about his medical journey as a Boston Children’s patient and his quest to return to the hospital. I came to Boston after being born in Chicago, where I was diagnosed with the amazing Apert syndrome. It was because of the doctors and surgeons at Boston Children’s Hospital that I ended up in Massachusetts. One surgeon, Dr. Joe Upton, specialized in operating on the hands of Apert patients. He swung a home run every time he entered the operating roo...



Hearing Loss in Syndromic Craniosynostoses: Otologic Manifestations and Clinical Findings

Thu, 25 Sep 2014 00:00:00 +0100

This review addresses hearing loss as it occurs and has been reported in Muenke syndrome as well as six additional FGFR related craniosynostosis syndromes (Apert syndrome, Pfeiffer syndrome, Crouzon syndrome, Beare-Stevenson syndrome, Crouzon syndrome with acanthosis nigricans, and Jackson-Weiss syndrome. (Source: International Journal of Pediatric Otorhinolaryngology)



The Airway Management of Patients with Apert Syndrome

Thu, 04 Sep 2014 17:59:45 +0100

Introduction: The management of the Apert airway presents a rare and difficult challenge. The level of airway obstruction includes the pyriform aperture, nasal passages, posterior choanae, nasopharynx and oropharynx. Moreover, this group is prone to central apnoeas. Our aim was to study the treatment modalities of the Apert airway at our Craniofacial unit and to determine if there has been a trend away from tracheostomy. (Source: The British Journal of Oral and Maxillofacial Surgery)



Carpenter Syndrome: A Review for the Craniofacial Surgeon

Mon, 01 Sep 2014 05:00:00 +0100

ConclusionsThis study collates surgical management data from CS and other related syndromes as a means of establishing a cohesive approach to the surgical treatment of CS. (Source: Journal of Craniofacial Surgery)



Kira Yates, 9, has 'broken doll syndrome' and is held together with metal bar

Fri, 08 Aug 2014 17:59:27 +0100

Kira Yates, from Doncaster, has Apert syndrome - a condition involving abnormal growth of the skull and face and various other abnormalities. (Source: the Mail online | Health)

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Apert syndrome with omphalocele: A case report

Mon, 21 Jul 2014 00:00:00 +0100

We present a case of Apert syndrome and associated features reported to the National Registry of Congenital Anomalies of Argentina (RENAC). The reported case had omphalocele, esophageal atresia, and mega cisterna magna. The last two signs were reported several times as part of the clinical presentation of Apert syndrome. To our knowledge, this is the second reported case diagnosed with Apert syndrome associated with omphalocele. Birth Defects Research (Part A), 2014. © 2014 Wiley Periodicals, Inc. (Source: Birth Defects Research Part A: Clinical and Molecular Teratology)



The dental development in patients with Aperts syndrome

Tue, 01 Jul 2014 00:00:00 +0100

ConclusionsThe hypothesis ‘that there is no difference in the dental development of subjects with Apert syndrome, when compared to a group of matched controls’, was accepted. (Source: International Journal of Paediatric Dentistry)



Intellectual, Behavioral, and Emotional Functioning in Children With Syndromic Craniosynostosis

Mon, 02 Jun 2014 00:00:00 +0100

CONCLUSIONS: Although children who have syndromic craniosynostosis have FSIQs similar to the normative population, they are at increased risk for developing intellectual disability, internalizing, social, and attention problems. Higher levels of behavioral and emotional problems were related to lower levels of intellectual functioning. (Source: PEDIATRICS)



Mandibular Asymmetry in Patients With the Crouzon or Apert Syndrome.

Fri, 30 May 2014 00:00:00 +0100

Authors: Elmi P, Reitsma JH, Buschang PH, Wolvius EB, Ongkosuwito EM Abstract The aim of this study was to describe directional and fluctuating mandibular asymmetry over time in children with Crouzon or Apert syndrome. Mandibular asymmetry of children between 7.5 and 14 years of age with Crouzon syndrome (n = 35) and Apert syndrome (n = 24) were compared with controls (n = 327). From panoramic radiographs, mandibular directional and fluctuating asymmetry was determined for the three groups. Multilevel statistical techniques were used to describe mandibular asymmetry changes over time. Patients with Crouzon and Apert syndromes showed statistically significant more fluctuating asymmetry for mandibular measures than did controls. Between the Crouzon and Apert syndromes groups, no stat...



Frequency of activating mutations in FGFR2 exon 7 in bladder tumors from patients with early-onset and regular-onset disease.

Thu, 15 May 2014 05:10:02 +0100

Authors: Spiegelberg C, Giedl J, Gaisa NT, Rogler A, Riener MO, Filbeck T, Burger M, Ruemmele P, Hartmann A, Stoehr R Abstract The FGF/FGFR-system plays an important role in embryogenesis, tissue homeostasis and carcinogenesis. Mutational activation of FGFR2 resulting in aberrant FGFR2 signaling activation is known from both hereditary germ line alterations and somatic mutations in various malignancies (e.g. breast, gastric or ovarian cancer). FGFR2 mutations are mainly located within the hinge between Ig-like domains (exon 7), around the 3rd Ig-like domains and within the kinase domain. For bladder cancer only sparse data on FGFR2 mutations are available. Most interestingly a case of early-onset papillary carcinoma of the bladder showing a FGFR2 p.Pro253Arg mutation in exon 7 in a...

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Assessing the corrective effects of facial bipartition distraction in Apert syndrome using geometric morphometrics

Mon, 07 Apr 2014 00:00:00 +0100

This study looks to identify to what extent bipartition distraction corrects the morphological abnormalities of this condition. Preoperative and postoperative three-dimensional computed tomography (3DCT) scans of 10 patients with Apert syndrome (12–21 years) were identified from the Great Ormond Street Hospital database. To analyse preoperative and postoperative scans, 98 landmarks and 13 normal skulls were used. Principal component analysis (PCA) was used to analyse patterns in the datasets. Within each group, eigenvectors were identified that demonstrated the aspects of the skull where most variations were found. The analysis allowed both global shape measurement and local proportions. Postoperative and normal scans both showed the same first three principal components. Warping from pr...



Shedding light on Apert syndrome development with the help of 3-D imaging

Tue, 04 Mar 2014 09:00:00 +0100

Three dimensional imaging of two different mouse models of Apert Syndrome shows that cranial deformation begins before birth and continues, worsening with time, according to a team of researchers who studied mice to better understand and treat the disorder in humans.Apert Syndrome is caused by mutations in FGFR2 - fibroblast growth factor receptor 2 - a gene, which usually produces a protein that functions in cell division, regulation of cell growth and maturation, formation of blood vessels, wound healing, and embryonic development. (Source: Health News from Medical News Today)



3-D imaging sheds light on Apert syndrome development

Fri, 28 Feb 2014 21:06:22 +0100

Three-dimensional imaging of two different mouse models of Apert Syndrome shows that cranial deformation begins before birth and continues, worsening with time, according to a team of researchers who studied mice to better understand and treat the disorder in humans. (Source: ScienceDaily Headlines)



Getting a head start on Apert syndrome

Fri, 28 Feb 2014 08:00:00 +0100

Scientists have gained insights into skull development in the rare disease Apert syndrome by showing that mice with this disease have consistent prenatal growth patterns. The findings will be published in the open access journal BMC Developmental Biology to coincide with Rare Diseases Day on the 28th February. Skull formation is normally a complex interplay of different signals from various tissues. Babies are born with sutures - gaps in the skull, which close up later on in development, allowing the skull to adapt to the rate of growth. (Source: Health News from Medical News Today)



3-D imaging sheds light on Apert syndrome development

Fri, 28 Feb 2014 05:00:00 +0100

(Penn State) Three-dimensional imaging of two different mouse models of Apert Syndrome shows that cranial deformation begins before birth and continues, worsening with time, according to a team of researchers who studied mice to better understand and treat the disorder in humans. (Source: EurekAlert! - Biology)

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Craniofacial divergence by distinct prenatal growth patterns in Fgfr2 mutant mice

Fri, 28 Feb 2014 00:00:00 +0100

Conclusions: Our analysis of mutation-driven changes in cranial growth provides a previously missing piece of knowledge necessary to the explanation of variation in emergent cranial morphologies. This information is critical to the understanding of craniofacial development, disease and evolution and may contribute to the evaluation of incipient therapeutic strategies. (Source: BMC Developmental Biology - Latest articles)



Quantification of facial skeletal shape variation in fibroblast growth factor receptor‐related craniosynostosis syndromes

Thu, 27 Feb 2014 00:00:00 +0100

ConclusionOur quantitative analysis of facial phenotypes demonstrate subtle variation within and among craniosynostosis syndromes that might, with further research, provide information about the impact of the mutation on facial skeletal and nonskeletal development. We suggest that precise studies of the phenotypic consequences of genetic mutations at many levels of analysis should accompany next‐generation genetic research and that these approaches should proceed cooperatively. Birth Defects Research (Part A), 2014. © 2014 Wiley Periodicals, Inc. (Source: Birth Defects Research Part A: Clinical and Molecular Teratology)



Intra-operative hypoglycemia and electrolyte imbalance in a child with Apert syndrome during craniosynostosis surgery.

Mon, 10 Feb 2014 10:40:08 +0100

Authors: Hochhold C, Luckner G, Strohmenger U, Scholl-Bürgi S, Paal P PMID: 24467579 [PubMed - in process] (Source: Paediatric Anaesthesia)



Embryonic craniofacial bone volume and bone mineral density in Fgfr2+/P253R and nonmutant mice

Fri, 07 Feb 2014 00:00:00 +0100

Conclusions: Estimates of bone volume and linear measures describing morphology do not necessarily covary, highlighting the value of quantifying multiple facets of gross osteological phenotypes when exploring the influence of a disease causing mutation. Differences in mechanisms of osteogenesis likely underlie differences in intramembranous and endochondral relative density increase. The influence of the FGFR2 P253R mutation on bone volume changes across the prenatal period and again after birth, while its influence on relative bone density is more stable. Developmental Dynamics, 2014. © 2013 Wiley Periodicals, Inc. (Source: Developmental Dynamics)



Intra‐operative hypoglycemia and electrolyte imbalance in a child with Apert syndrome during craniosynostosis surgery

Tue, 28 Jan 2014 05:00:00 +0100

(Source: Pediatric Anesthesia)

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A Novel Heterozygous Mutation Of Three Consecutive Nucleotides Causing Apert Syndrome In A Congolese Family.

Tue, 28 Jan 2014 00:00:00 +0100

Authors: Lumaka A, Mubungu G, Mukaba P, Mutantu P, Luyeye G, Corveleyn A, Tady BP, Lukusa Tshilobo P, Devriendt K Abstract Apert syndrome (OMIM 101200) is a rare genetic condition characterized by craniosynostosis and syndactyly of hands and feet with clinical variability. Two single nucleotides mutations in the linker between the immunoglobulin-like domains II and IIIa of the ectodomainin the Fibroblast Growth Factor Receptor 2 gene (FGFR2, OMIM 176943) are responsible of the vast majority of cases: c.755C>G; p.Ser252Trp (65%) and c.758C>G; p.Pro253Arg (34%. Three exceptional cases carry multiple substitutions of adjacent nucleotides in the linker region. Here we present a Congolese male patient and his mother, both affected with Apert syndrome of variable severity, carrying...



Clinicogenetic Study of Turkish Patients With Syndromic Craniosynostosis and Literature Review

Mon, 13 Jan 2014 00:00:00 +0100

Conclusions: Our results indicate that the majority of Turkish patients with syndromic craniosynostosis have detectable genetic changes with an overall frequency of 72.7%. Because this is the first molecular genetic report from a Turkish cohort, the identified spectrum profile of FGFR2 mutations of the syndromic craniosynostotic patients would be very helpful for understanding the genotype–phenotype relationship and has a great value for diagnosis, prognosis, and genetic counseling. (Source: Pediatric Neurology)



Mutational identification of fibroblast growth factor receptor 1 and fibroblast growth factor receptor 2 genes in craniosynostosis in Indian population

Sat, 04 Jan 2014 05:00:00 +0100

Conclusion: Our study proposed that FGFR1, FGFR2 mutation, which confers predisposition to craniosynostosis does not exist in Indian population when compared to the western world. (Source: Indian Journal of Human Genetics)



Infrared venography of the hand in Apert syndrome

Mon, 25 Nov 2013 05:00:00 +0100

Soh Nishimoto, Kenji Fukuda, Toshihiro Fujiwara, Masato Kinoshita, Kenichiro Kawai, Masao KakibuchiIndian Journal of Plastic Surgery 2013 46(3):584-586As well as craniofacial synostosis, complex syndactyly of hands is a distinctive feature of Apert syndrome. Consideration of blood flow to the digits is very important in separation surgery. Several reports offer information about arterial distribution in Apert's hands. Though, venous pattern has not been well discussed. Infrared venography offers a real-time image with minimal invasion. An Apert syndrome patient underwent a series of finger splitting surgeries. Infrared venography was carried out to assess veins. There was a palmar venous arch, placing distally to the metacarpophalangeal joint. The arch had to be cut to divide fused ...



[Prenatal diagnosis of Apert syndrome caused by de novo mutation in FGFR2 gene.]

Mon, 25 Nov 2013 05:00:00 +0100

Authors: Pi G, Zúñiga A, Cervera J, Ortiz M PMID: 24286882 [PubMed - as supplied by publisher] (Source: Anales de Pediatria)

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Acne as a chronic systemic disease

Mon, 25 Nov 2013 00:00:00 +0100

Abstract: Acne is the most common skin disorder. In the majority of cases, acne is a disease that changes its skin distribution and severity over time; moreover, it can be a physically (scar development) and psychologically damaging condition that lasts for years. According to its clinical characteristics, it can be defined as a chronic disease according to the World Health Organization criteria. Acne is also a cardinal component of many systemic diseases or syndromes, such as congenital adrenal hyperplasia, seborrhea-acne-hirsutism-androgenetic alopecia syndrome, polycystic ovarian syndrome, hyperandrogenism-insulin resistance-acanthosis nigricans syndrome, Apert syndrome, synovitis-acne-pustulosis-hyperostosis-osteitis syndrome, and pyogenic arthritis-pyoderma gangrenosum-acne syndrome. ...



Soluble form of FGFR2 with S252W partially prevents craniosynostosis of the Apert mouse model

Thu, 21 Nov 2013 05:00:00 +0100

Conclusions: sFGFR2IIIcS252W may partially prevent craniosynostosis in the Apert mouse model by affecting the CS and IFS in vivo. Developmental Dynamics, 2013. © 2013 Wiley Periodicals, Inc. (Source: Developmental Dynamics)



Bone volume and bone mineral density during growth of normal and Fgfr2 +/P253R mice

Mon, 11 Nov 2013 05:00:00 +0100

Conclusions: Estimates of bone volume and linear measures describing morphology do not necessarily covary, highlighting the value of quantifying multiple facets of gross osteological phenotypes when exploring the influence of a disease causing mutation. Differences in mechanisms of osteogenesis likely underlie differences in intramembranous and endochondral relative density increase. The influence of the FGFR2 P253R mutation on bone volume changes across the prenatal period and again after birth, while its influence on relative bone density is more stable. Developmental Dynamics, 2013. © 2013 Wiley Periodicals, Inc. (Source: Developmental Dynamics)



Headspace helps to put a happy face on the children who look different

Sun, 10 Nov 2013 00:04:11 +0100

Art meets science in Liverpool as a top craniofacial surgeon enlists the help of the public to find a 'normal' head shapeChristian Duncan is a man with a thousand faces. And he needs every one of them to assist him in his delicate, invariably life-changing work.As a surgeon with the responsibility of redrawing the disfigured faces and reshaping the misshapen heads of children, he needs all the guidance he can muster. So in 2011 he came up with the idea of enlisting the public to help him in his work in the craniofacial unit at Alder Hey in Liverpool, one of Europe's biggest children's hospitals.Two years on, the result is Headspace, a fascinating and unique interactive installation, put together by three women graduates of Liverpool School of Art and Design, that is running at Fact (Founda...



Apert syndrome: A consensus on the management of apert hands

Wed, 06 Nov 2013 03:18:39 +0100

This study, in collaboration with The Healing Foundation, examines the extant literature and current UK practice regarding the management of Apert hands in order to provide a basis for guideline development. (Source: International Journal of Surgery)

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Fibroblast growth factor receptors, developmental corruption and malignant disease

Mon, 30 Sep 2013 04:00:00 +0100

Fibroblast growth factors (FGF) are a family of ligands that bind to four different types of cell surface receptor entitled, FGFR1, FGFR2, FGFR3 and FGFR4. These receptors differ in their ligand binding affinity and tissue distribution. The prototypical receptor structure is that of an extracellular region comprising three immunoglobulin (Ig)-like domains, a hydrophobic transmembrane segment and a split intracellular tyrosine kinase domain. Alternative gene splicing affecting the extracellular third Ig loop also creates different receptor isoforms entitled FGFRIIIb and FGFRIIIc. Somatic fibroblast growth factor receptor (FGFR) mutations are implicated in different types of cancer and germline FGFR mutations occur in developmental syndromes particularly those in which craniosynostosis is a ...



Biology Conspires Against Women Having It All

Mon, 16 Sep 2013 12:54:40 +0100

Time keeps on ticking into the future but our parenting time is limited.read more (Source: Psychology Today Relationships Center)



Dental Maturation in Children With the Syndrome of Crouzon and Apert.

Tue, 10 Sep 2013 04:00:00 +0100

Conclusions:   Dental maturation in patients with Apert syndrome was more delayed than in patients with Crouzon syndrome. The delay of tooth formation in patients with Crouzon or Apert syndrome suggests a possible common genetic association. PMID: 24021057 [PubMed - as supplied by publisher] (Source: The Cleft Palate-Craniofacial Journal)



A case of Crouzon syndrome treated by simultaneous bimaxillary distraction

Wed, 24 Jul 2013 04:00:00 +0100

This report will present such a case in a child in whom good results were obtained. (Source: Journal of Plastic, Reconstructive and Aesthetic Surgery)



Common genetic disease linked to father's age (EurekAlert, 6 June 2013)

Mon, 10 Jun 2013 12:00:00 +0100

A US study of the genetic disease Noonan Syndrome published in The American Journal of Human Genetics suggests that the de novo paternal mutation in the spermatogonial sperm cell may convey an advantage that allows them to increase in frequency, producing more mutated sperm in an age-dependent manner. The authors suggest that this may also confer a selection advantage for the recurrent mutations in the receptor tyrosine kinases that cause Apert syndrome and MEN2B. Full article (Source: Society for Endocrinology)

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Orthodontic Treatment in Combination with Le Fort II Bone Distraction in Patient with Apert Syndrome.

Sat, 25 May 2013 01:20:02 +0100

We report a case of an 11-year-old girl presenting with Apert syndrome characterized by midface concavity, protrusion of the eyeballs, and ocular hypertelorism. She had class III anterior crossbite, narrow upper and lower arches, and marked crowding. Based on cephalometric analysis, anterior crossbite associated with marked midfacial hypoplasia was diagnosed. Orthodontic treatment in combination with Le Fort II maxillary distraction was scheduled. The dentition was laterally extended using a Rapid palatal expander in the upper jaw and a Bihelix in the lower jaw. Multi-bracket appliances were simultaneously applied for leveling. Next, Le Fort II maxillary osteotomy was performed to distract the midface bone 16 mm anteroinferiorly using a rigid external distraction system. Orthodontic treatm...



Early midfacial distraction for syndromic craniosynostotic patients with obstructive sleep apnoea

Wed, 22 May 2013 04:00:00 +0100

In this study, marked improvements were observed in physical evaluation using PSGs and morphological evaluation using cephalograms. Early midfacial distraction is thought to be a very useful method to reconstruct a large pharyngeal cavity, enlarge the airway, improve obstructive respiratory disorders and to avoid tracheostomy. It is important to select a device suitable for each case when surgery and distraction are performed. (Source: Journal of Plastic, Reconstructive and Aesthetic Surgery)



A longitudinal study of dental arch morphology in children with the syndrome of Crouzon or Apert

Fri, 03 May 2013 04:00:00 +0100

The aim of this study was to compare changes in dental arch morphology between patients with Crouzon syndrome or Apert syndrome and controls. Children between 4 and 14 yr of age with Crouzon syndrome (n = 40) or Apert syndrome (n = 28) were compared with non‐syndromic controls (n = 457) in terms of arch widths, depths, and length dimensions. Multilevel statistical modeling techniques were used to evaluate changes over time. Dental arch dimensions were found to be smaller in patients with Crouzon syndrome or Apert syndrome compared with control subjects. Maxillary intercanine width for patients with Apert syndrome were increased, whilst other arch width variables showed no change. Patients with Crouzon syndrome showed increases in maxillary intercanine width, whilst intermolar widt...



"Selfish Spermatogonial Selection": A Novel Mechanism for the Association Between Advanced Paternal Age and Neurodevelopmental Disorders.

Fri, 03 May 2013 04:00:00 +0100

"Selfish Spermatogonial Selection": A Novel Mechanism for the Association Between Advanced Paternal Age and Neurodevelopmental Disorders. Am J Psychiatry. 2013 May 3; Authors: Goriely A, McGrath JJ, Hultman CM, Wilkie AO, Malaspina D Abstract There is robust evidence from epidemiological studies that the offspring of older fathers have an increased risk of neurodevelopmental disorders, such as schizophrenia and autism. The authors present a novel mechanism that may contribute to this association. Because the male germ cell undergoes many more cell divisions across the reproductive age range, copy errors taking place in the paternal germline are associated with de novo mutations in the offspring of older men. Recently it has been recognized that somatic mutations in male ger...



Non-invasive prenatal diagnosis for single gene disorders: experience of patients.

Tue, 30 Apr 2013 04:00:00 +0100

CONCLUSION: NIPD for these particular single gene disorders was appreciated by women and appears to be satisfactory. Further exploration of stakeholder views may be required to inform more widespread implementation of NIPD for a broader range of genetic conditions. PMID: 23631435 [PubMed - as supplied by publisher] (Source: Clinical Genetics)

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The Fgfr2S252W/+ mutation in mice retards mandible formation and reduces bone mass as in human Apert syndrome

Wed, 13 Mar 2013 04:00:00 +0100

Abstract Apert syndrome is a common craniosynostosis caused by gain‐of‐function missense mutations of fibroblast growth factor receptor 2 (FGFR2). Mice with the FGFR2 S252W mutation can elucidate the mechanism by which the human Apert syndrome phenotypes arise. However, many studies have focused on mutant skull and long bone malformation, only few studies have focused on mandible changes. Bone formation and micro‐architecture between 28‐ and 56‐day‐old mutant mice and controls were compared to investigate the changes in the mandibular micro‐architecture caused by the Fgfr2S252W/+ mutation to provide a basis for exploring the pathogenesis and therapeutic measures of human Apert syndrome. Fgfr2S252W/+ mutant mice were established, and their general characteristics, including we...



Postnatal brain and skull growth in an Apert syndrome mouse model

Tue, 12 Mar 2013 04:00:00 +0100

Abstract Craniofacial and neural tissues develop in concert throughout prenatal and postnatal growth. FGFR‐related craniosynostosis syndromes, such as Apert syndrome (AS), are associated with specific phenotypes involving both the skull and the brain. We analyzed the effects of the FGFR P253R mutation for AS using the Fgfr2+/P253R Apert syndrome mouse to evaluate the effects of this mutation on these two tissues over the course of development from day of birth (P0) to postnatal day 2 (P2). Three‐dimensional magnetic resonance microscopy and computed tomography images were acquired from Fgfr2+/P253R mice and unaffected littermates at P0 (N = 28) and P2 (N = 20).Three‐dimensional coordinate data for 23 skull and 15 brain landmarks were statistically compared between groups. Res...



p.Ser252Trp and p.Pro253Arg mutations in FGFR2 gene causing Apert syndrome: the first clinical and molecular report of Indonesian patients.

Fri, 01 Mar 2013 05:00:00 +0100

This report underpins the benefits of early diagnosis for AS management. PMID: 23546041 [PubMed - in process] (Source: Singapore Medical Journal)



Disease-Causing Mutation in Extracellular and Intracellular Domain of FGFR1 Protein: Computational Approach.

Sat, 19 Jan 2013 05:00:00 +0100

Authors: Rajith B, George Priya Doss C Abstract In-depth computationally based structural analysis of human fibroblast growth factor type 1 (FGFR1) protein carrying disease-causing mutation was performed in this study. Gain or loss of function due to missense mutations in FGFR1 is responsible for a variety of disorders including Kallmann syndrome, Apert syndrome, Pfeiffer syndrome, Crouzon syndrome, etc. The mutant model of the human FGFR1 protein was subjected to various in silico analysis, and most deleterious SNPs were screened out. Furthermore, docking and long molecular dynamics simulations were carried out with an intention of studying the possible impact of these mutations on the protein structure and hence its function. Analysis of various structural properties-especially o...



Bilateral Acromial Dimples: A Case Report and Review of the Literature

Wed, 21 Nov 2012 05:00:00 +0100

This article reports an 18‐month‐old girl with congenital bilateral acromial dimples and presents a classification of this unusual entity. A literature review of English and non‐English publications was performed. We report the second case of bilateral acromial dimples seen in the context of maternal cocaine use during pregnancy. Our case is probably sporadic and nonsyndromal. We suggest that bilateral acromial dimples be classified as syndromal or nonsyndromal and that nonsyndromal cases be subdivided into inherited and sporadic. Although bilateral acromial dimples can be seen in 18q deletion syndrome, Apert syndrome, Say syndrome, and a recently described syndrome in Brazil, our review of the literature does not support the association with trisomy 9 syndrome. Dermatologists need t...

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Congenital and acquired developmental problems of the upper airway in newborns and infants

Fri, 09 Nov 2012 19:20:29 +0100

Conclusion: Upper airway diseases in neonates and infants may be life threatening, or challenging regarding diagnosis and management. There should be a very low threshold for referring these children, after establishing a safe airway, for a specialist opinion and care in a tertiary unit, if local facilities are limited or unavailable. (Source: Early Human Development)



Patterns of Tooth Agenesis in Patients With the Syndrome of Crouzon or Apert.

Mon, 05 Nov 2012 05:00:00 +0100

Conclusions :  Tooth agenesis is more prevalent in patients with Crouzon or Apert syndrome than in control subjects. Tooth agenesis and mandibular symmetrical patterns of second premolar agenesis are more prevalent in syndromic patients. PMID: 23126314 [PubMed - as supplied by publisher] (Source: The Cleft Palate-Craniofacial Journal)



Craniofacial Stability in Patients With the Syndrome of Crouzon and Apert After Le Fort III Distraction Osteogenesis.

Tue, 21 Aug 2012 04:00:00 +0100

Conclusions:  DO of the midface in patients with the syndrome of Crouzon and Apert seems to be stable in the sagittal direction after follow-up. Although Crouzon and Apert differ after DO, anteroposterior craniofacial dimensions were significantly improved and were closer to patterns of normal subjects. PMID: 22909221 [PubMed - as supplied by publisher] (Source: The Cleft Palate-Craniofacial Journal)



Multiple Radiopaque Mandibular Lesions in a Patient with Apert Syndrome

Mon, 13 Aug 2012 04:00:00 +0100

Conclusions: To our knowledge, this is the first study reporting the occurrence of florid osseous dysplasia in a patient with Apert syndrome. Conservative management should be performed in asymptomatic cases. Although rare, our case report highlights the importance of florid osseous dysplasia as a condition that may mimic lesions with an endodontic origin in patients with Apert syndrome. (Source: Journal of Endodontics)



Mouse models of Apert syndrome

Thu, 09 Aug 2012 07:20:20 +0100

Discussion  Mouse models of both of these two causative mutations and a third rare splice mutation have been created and display many of the phenotypes typical of Apert syndrome. The molecular and cellular mechanisms underlying Apert phenotypes have begun to be elucidated, and proof-of-principle treatment of these phenotypes by chemical inhibitor and gene-based therapies has been demonstrated. Content Type Journal ArticleCategory Special Annual IssuePages 1505-1510DOI 10.1007/s00381-012-1872-zAuthors Greg Holmes, Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, One Gustave L. Levy Place, 1428 Madison Avenue, New York, NY 10029, USA Journal Child's Nervous SystemOnline ISSN 1433-0350Print ISSN 0256-7040 Journal Volume Volume 28 ...

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Impact of genetics on the diagnosis and clinical management of syndromic craniosynostoses

Thu, 09 Aug 2012 07:20:08 +0100

Conclusions  Patients with syndromic craniosynostosis require management and treatment of issues involving multiple organ systems which span beyond craniosynostosis. Thus, effective care of these patients requires a multidisciplinary approach. Content Type Journal ArticleCategory Special Annual IssuePages 1447-1463DOI 10.1007/s00381-012-1756-2Authors Nneamaka B. Agochukwu, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, NIH, MSC 3717, Building 35, Room 1B-207, Bethesda, MD 20892, USABenjamin D. Solomon, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, NIH, MSC 3717, Building 35, Room 1B-207, Bethesda, MD 20892, USAMaximilian Muenke, Medical Genetics Branch, National Huma...



Using principal component analysis to describe the Apert skull deformity and simulate its correction

Thu, 09 Aug 2012 04:00:00 +0100

Apert syndrome is an autosomal dominant condition caused by specific mutations leading to growth restriction, thought to originate in the anterior cranial base. This in turn results in the Apert skull. (Source: Journal of Plastic, Reconstructive and Aesthetic Surgery)



Mesodermal expression of Fgfr2(S252W) is necessary and sufficient to induce craniosynostosis in a mouse model of Apert syndrome.

Fri, 03 Aug 2012 17:15:12 +0100

Authors: Holmes G, Basilico C Abstract Coordinated growth of the skull and brain are vital to normal human development. Craniosynostosis, the premature fusion of the calvarial bones of the skull, is a relatively common pediatric disease, occurring in 1 in 2500 births, and requires significant surgical management, especially in syndromic cases. Syndromic craniosynostosis is caused by a variety of genetic lesions, most commonly by activating mutations of FGFRs 1-3, and inactivating mutations of TWIST1. In a mouse model of TWIST1 haploinsufficiency, cell mixing between the neural crest-derived frontal bone and mesoderm-derived parietal bone accompanies coronal suture fusion during embryonic development. However, the relevance of lineage mixing in craniosynostosis induced by activating...



The role of bronchoscopy in the management of patients with severe craniofacial syndromes

Wed, 01 Aug 2012 04:00:00 +0100

Conclusions: Airway anomalies occurred in 70% of children with severe craniofacial syndromes and respiratory symptoms. Bronchoscopy should be performed routinely in this selected group of patients, and the entire airway must be examined. Treatment should be tailored to each individual patient. (Source: Journal of Pediatric Surgery)



Residents' journal review

Sun, 01 Jul 2012 04:00:00 +0100

In this study, the authors analyzed the craniofacial growth pattern in patients with Crouzon and Apert syndromes compared with a sample of unaffected normal control subjects. The lateral cephalograms of 62 patients (37 with Crouzon syndrome, 25 with Apert syndrome) and 482 unaffected control subjects were obtained. Clinical diagnoses of Apert or Crouzon syndrome in all 62 patients were genetically confirmed. The lateral cephalograms were traced, and 8 cephalometric measurements were digitized. Multilevel modeling was used to analyze growth changes and compare the 3 groups. The authors reported significant differences in the sagittal and vertical morphologies, with the syndromic groups showing increased lower facial height ratios, increased inclination of the palatal planes, retruded maxill...

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Health-related problems and quality of life in patients with syndromic and complex craniosynostosis

Tue, 10 Jan 2012 17:00:53 +0100

Conclusions  The overall quality of life is lower in patients with syndromic and complex craniosynostosis. To improve quality of life, more attention is needed for problems with vision and speech. Content Type Journal ArticleCategory Original PaperPages 1-4DOI 10.1007/s00381-012-1681-4Authors Tim de Jong, Department of Plastic and Reconstructive Surgery and Hand Surgery, Dutch Craniofacial Center, Erasmus MC, Sophia Children’s Hospital, Room Ee 15.91, Dr. Molewaterplein 50, 3015 GE Rotterdam, The NetherlandsMarianne Maliepaard, Department of Plastic and Reconstructive Surgery and Hand Surgery, Dutch Craniofacial Center, Erasmus MC, Sophia Children’s Hospital, Room Ee 15.91, Dr. Molewaterplein 50, 3015 GE Rotterdam, The NetherlandsNatalja Bannink, Department of Pla...



The Apert Hand—Angiographic Planning of a Single-Stage, 5-Digit Release for All Classes of Deformity

Thu, 29 Dec 2011 03:44:44 +0100

Conclusions: The protocol presented allows preoperative planning and single-stage operation for complete release of syndactyly in patients with Apert syndrome. (Source: The Journal of Hand Surgery)



Apert syndrome mutant FGFR2 and its soluble form reciprocally alter osteogenesis of primary calvarial osteoblasts

Mon, 21 Nov 2011 05:00:00 +0100

In this study, we characterized the effects of one of the mutations (S252W) using primary calvarial osteoblasts derived from transgenic mice, Ap‐Tg and sAp‐Tg, that expressed an Apert‐type mutant FGFR2 (FGFR2IIIc‐S252W; FGFR2IIIc‐Ap), and the soluble form (extracellular domain only) of the mutant FGFR2 (sFGFR2IIIc‐Ap), respectively. Compared to WT‐derived osteoblasts, osteoblasts from Ap‐Tg mouse showed a higher proliferative activity and enhanced differentiation, while those from sAp‐Tg mouse exhibited reduced potential for proliferation and osteogenic differentiation. When transplanted with β‐tricalcium phosphate (β‐TCP) granules into immunodeficient mice, Ap‐Tg‐derived osteoblasts showed a higher bone forming capacity, whereas sAp‐Tg‐derived osteoblasts w...



Fronto-facial monobloc distraction in syndromic craniosynostosis. Three-dimensional evaluation of treatment outcome and facial growth

Thu, 17 Nov 2011 05:00:00 +0100

The objectives of this study were to investigate the treatment effect and stability of fronto-facial monobloc distraction osteogenesis. Five consecutive patients who underwent monobloc distraction were included (aged 4.8–18.4 years). Three patients had Crouzon syndrome, one had Apert syndrome, and one had Pfeiffer syndrome. The evaluation included clinical records, serial cephalograms for at least 1-year follow up (average 24.6 months). The treatment and post-treatment changes were measured. The intracranial volume, upper airway volume and globe protrusion were calculated from CT before and after treatment. After distraction, the supraorbital region was advanced 15.3mm forward, the midface demonstrated forward advancement of 17.7mm, 22.1mm and 23.1mm at orbitale, anterior nasal spine and...

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Brain and ventricular volume in patients with syndromic and complex craniosynostosis

Wed, 19 Oct 2011 15:45:08 +0100

Conclusions  Patients with syndromic craniosynostosis have a normal total brain volume compared to normal controls. Increased ventricular volume is associated with Apert syndrome and Chiari I malformations, which is most commonly found in Crouzon syndrome. We advice screening of all patients with Apert and Crouzon syndrome for the development of enlarged ventricle volume and the presence of a Chiari I malformation. Content Type Journal ArticleCategory Original PaperPages 1-4DOI 10.1007/s00381-011-1614-7Authors T. de Jong, Department of Plastic and Reconstructive Surgery, and Hand Surgery, Sophia Children’s Hospital, Erasmus University Medical Center, Rotterdam, The NetherlandsB. F. M. Rijken, Department of Plastic and Reconstructive Surgery, and Hand Surgery, Soph...



Assessment of White Matter Microstructural Integrity in Children with Syndromic Craniosynostosis: A Diffusion-Tensor Imaging Study [Neuroradiology]

Wed, 19 Oct 2011 04:00:00 +0100

Conclusion: Diffusion-tensor imaging measurements of white matter tracts reveal significant white matter integrity differences between children with craniosynostosis and healthy control subjects. This could imply that the developmental delays seen in these patients could be caused by the presence of a primary disorder of the white matter microarchitecture. © RSNA, 2011 (Source: Radiology)



Craniosynostosis genetics: The mystery unfolds

Mon, 17 Oct 2011 04:00:00 +0100

Inusha PanigrahiIndian Journal of Human Genetics 2011 17(2):48-53Craniosynsostosis syndromes exhibit considerable phenotypic and genetic heterogeneity. Sagittal synostosis is common form of isolated craniosynostosis. The sutures involved, the shape of the skull and associated malformations give a clue to the specific diagnosis. Crouzon syndrome is one of the most common of the craniosynostosis syndromes. Apert syndrome accounts for 4.5% of all craniosynostoses and is one of the most serious of these syndromes. Most syndromic craniosynostosis require multidisciplinary management. The following review provides a brief appraisal of the various genes involved in craniosynostosis syndromes, and an approach to diagnosis and genetic counseling. (Source: Indian Journal of Human Genetics)



Experience with intracranial volume increase in craniosynostosis using posterior cranial vault distraction osteogenesis

Sat, 01 Oct 2011 04:00:00 +0100

Aim: To study distraction osteogenesis of the posterior cranial vault in children requiring increased intracranial volume. Materials and methods: Ten patients were treated with cranial distractors. Five children had previously been operated for scaphocephaly and one child for Saether Chotzen syndrome. Two patients had bilateral coronal suture synostosis with Muenke syndrome and two patients had Apert syndrome. At surgery cranial bones were mobilized, the head was widened during surgery, and the segments fixed to each other with distarctors. Further expansion at a rate of 1mm/day was performed over 2–4 weeks. The cranium was distracted posteriorly from 20 to 30mm. (Source: International Journal of Oral and Maxillofacial Surgery)



Maxillary-midface distraction

Sat, 01 Oct 2011 04:00:00 +0100

Aim: The midface or the maxilla in syndromatic patients as cleft lip and palate, crouzon or Apert syndrome can be severely retruded and hypoplastic in antero posterior and vertical dimension make difficult to correct in proper three-dimensional mode. In cleft lip and palate patients that need large advancement, the maxilla can be difficult to mobilize due to scarring from previous operations and there is a tendency to relapse after conventional orthognathic surgery. Based on research and clinical experience, distraction osteogenesis has minimal tendency to relapse even after great skeletal movements, due to the new bone formed in the distraction gap. In this presentation we will demonstrate our experience using internal and external devices in maxillary deficiency. (Source: International J...

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A deletion of FGFR2 creating a chimeric IIIb/IIIc exon in a child with Apert syndrome

Fri, 23 Sep 2011 04:00:00 +0100

Conclusions: Based on the known pathogenesis of Apert syndrome, the chimeric FGFR2 protein is predicted to act in a dominant gain-of-function manner. This is likely to result from its expression in mesenchymal tissues, where retention of most of the residues essential for FGFR2b binding activity would result in autocrine activation. This report adds to the repertoire of rare cases of Apert syndrome for which a pathogenesis based on atypical FGFR2 rearrangements can be demonstrated. (Source: BMC Medical Genetics - Latest articles)



Functional characterization of a novel FGFR2 mutation, E731K, in craniosynostosis

Fri, 16 Sep 2011 04:00:00 +0100

In this study, we reported and functionally analyzed a novel mutation of the FGFR2 gene found in a craniosynostosis patient, E731K. The mutation is in the 2nd tyrosine kinase domain in the C‐terminal cytoplasmic region of the molecule. The mutation caused an enhanced phosphorylation of the FGFR2E731K and ERK‐MAP kinase, the stimulation of transcriptional activity of Runx2, and consequently, the enhancement of osteogenic marker gene expression. We conclude that the substitution of E731K in FGFR2 is a novel mutation that resulted in a constitutive activation of the receptor and ultimately resulted in premature suture obliteration. J. Cell. Biochem. © 2011 Wiley‐Liss, Inc. (Source: Journal of Cellular Biochemistry)



Assessment of White Matter Microstructural Integrity in Children with Syndromic Craniosynostosis: A Diffusion-Tensor Imaging Study [Neuroradiology]

Wed, 17 Aug 2011 23:00:00 +0100

Conclusion: Diffusion-tensor imaging measurements of white matter tracts reveal significant white matter integrity differences between children with craniosynostosis and healthy control subjects. This could imply that the developmental delays seen in these patients could be caused by the presence of a primary disorder of the white matter microarchitecture. © RSNA, 2011 (Source: Continuous Publishing articles)



Audiological Profile of Children and Young Adults With Syndromic and Complex Craniosynostosis [Original Article]

Sun, 14 Aug 2011 23:00:00 +0100

Conclusions  Most patients with syndromic and complex craniosynostosis have recurrent otitis media with effusion, causing episodes of conductive hearing loss throughout their lives. Sensorineural hearing loss can occur in all 4 syndromes studied but is the primary cause of hearing loss in children and young adults with Muenke syndrome. For patients with these syndromes, we recommend routine visits to the general practitioner or otolaryngologist, depending on national standards of care, to screen for otitis media with effusion throughout life. We also advise early screening for sensorineural hearing loss among children and young adults with these syndromes. (Source: Archives of Otolaryngology)



Usefulness of Airtraq in a 3-month-old child with Apert Syndrome.

Mon, 08 Aug 2011 18:36:08 +0100

Authors: Sbaraglia F, Lorusso R, Garra R, Sammartino M PMID: 21793981 [PubMed - in process] (Source: Paediatric Anaesthesia)

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Usefulness of Airtraq in a 3‐month‐old child with Apert Syndrome

Wed, 27 Jul 2011 21:43:53 +0100

(Source: Pediatric Anesthesia)



Congenital diaphragmatic hernia as prenatal presentation of Apert syndrome

Sun, 26 Jun 2011 23:00:00 +0100

(Source: Prenatal Diagnosis)



Dental agenesis patterns of permanent teeth in Apert syndrome

Mon, 25 Apr 2011 23:00:00 +0100

In conclusion, patients with Apert syndrome were found to exhibit a high prevalence of dental agenesis. All dental agenesis patterns in which more than one tooth was missing were symmetrical. (Source: European Journal of Oral Sciences)



[Foreign body granuloma due to Horsley wax(®).]

Wed, 23 Mar 2011 00:00:00 +0100

We report three cases of foreign body granulomas due to bone wax. A 14-years-old female patient with an Apert syndrome underwent Le Fort III osteotomy and distraction osteogenesis; 3years later, an inflammatory granuloma appeared in the temporal area. A 23-years-old female patient, traffic accident casualty, complained about pain in the hip 1year after undergoing cervical spine surgery with iliac bone graft. A 35-years-old female patient underwent rhinoplasty with anterior nasal aperture surgery. She presented with an inflammatory reaction requiring several subsequent surgeries. DISCUSSION: Using Horsley wax(®) must be performed according to recommendations so as to prevent inflammatory or infectious complications, and to allow good bone healing. Surgeons must mention its use in the surgi...



Human Testes May Multiply Mutations

Tue, 22 Mar 2011 20:17:09 +0100

NIGMS-supported biologists suggest that natural selection may favor the development of germline cells that carry a mutation causing Apert syndrome. (Source: NIGMS - Results)

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