Acrocephalosyndactylia (Latest Articles)

Latest indexed articles for 'Acrocephalosyndactylia'

Articles 21 to 30 of 200:

Inner ear anomalies and conductive hearing loss in children with Apert syndrome: an overlooked otologic aspect.

30 Jan 2009 OBJECTIVE: To identify the occurrence of inner ear structural anomalies and conductive hearing loss (CHL) in children with Apert syndrome. STUDY DESIGN: Retrospective review. SETTING: Pediatric tertiary referral center. PATIENTS: Twenty pediatric ...
rec_pub_19169132-inner-ear-anomalies-conductive-hearing-loss-children-apert-syndrome.htm

Rare mutations of FGFR2 causing apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamily.

30 Jan 2009 Apert syndrome (AS) is a severe disorder, characterized by craniosynostosis and complex syndactyly of the hands and feet. Two heterozygous gain-of-function substitutions (Ser252Trp and Pro253Arg) in exon IIIa of fibroblast growth factor receptor 2 ...
rec_pub_18726952-rare-mutations-fgfr2-causing-apert-syndrome-identification-partial.htm

Early onset of craniosynostosis in an Apert mouse model reveals critical features of this pathology.

27 Jan 2009 Activating mutations of FGFRs1-3 cause craniosynostosis (CS), the premature fusion of cranial bones, in man and mouse. The mechanisms by which such mutations lead to CS have been variously ascribed to increased osteoblast proliferation, ...
rec_pub_19389359-early-onset-craniosynostosis-apert-mouse-model-reveals-critical.htm

Multi-directional Le Fort III midfacial distraction using an individual prefabricated device.

19 Jan 2009 BACKGROUND: Midfacial distraction following Le Fort III osteotomy has become an established procedure for midfacial advancement of syndromic craniosynostosis patients. A frequent difficulty is the precise three dimensional (3D) alignment of the ...
rec_pub_19157890-multi-directional-le-fort-iii-midfacial-distraction-using-individual.htm

Atypical Apert syndrome: sequential and segmental distraction osteogenesis of the skull, midface, and mandible.

30 Dec 2008 We describe a boy with Apert syndrome, including cranial deformities and syndactyly (acrocephalosyndactyly), though intracranial hypertension, exophthalmos, and midfacial hypoplasia were mild. We treated him by mandibular distraction, in addition to ...
rec_pub_19308862-atypical-apert-syndrome-sequential-segmental-distraction-osteogenesis.htm

Apert's syndrome: ophthalmic importance and clinical findings.

30 Dec 2008 Apert's syndrome is a rare form of craniosynostosis that exhibits with many ocular manifestations. We present two cases of Apert's syndrome. Our first case is a 10-year-old girl admitted with exotropia, V pattern and proptosis on examination. ...
rec_pub_19413227-apert-s-syndrome-ophthalmic-importance-clinical-findings.htm

Carpenter syndrome.

30 Dec 2008 Carpenter syndrome is a rare autosomal recessive disorder that belongs to a group of rare craniosynostosis syndromes (Bull Soc Med Paris 1906;23:1310). Carpenter syndrome is the rarest, with only occasional patients seen. There are 3 common features ...
rec_pub_19165041-carpenter-syndrome.htm

Fibroblast growth factor receptor 2 promotes osteogenic differentiation in mesenchymal cells via ERK1/2 and protein kinase C signaling.

28 Dec 2008 Mesenchymal stem cells (MSCs) are able to differentiate into several lineages including osteoblasts. The signaling mechanisms involved in the osteogenic differentiation of MSCs are however not fully understood. We investigated the role of fibroblast ...
rec_pub_19117954-fibroblast-growth-factor-receptor-2-promotes-osteogenic.htm

Apert syndrome: the current role of prenatal ultrasound and genetic analysis in diagnosis and counselling.

9 Dec 2008 Apert syndrome is a rare congenital malformation syndrome characterized by the triad of cutaneous and progressive bony syndactyly, midfacial hypoplasia and craniosynostosis. Two missense mutations of the gene encoding the fibroblast growth factor ...
rec_pub_19077386-apert-syndrome-current-role-prenatal-ultrasound-genetic-analysis.htm

Apert syndrome: report of a case with emphasis on craniofacial and genetic features.

30 Oct 2008 Apert syndrome is 1 of the 5 craniosynostosis syndromes that shore clinical features and are caused by allelic mutations in the fibroblast growth factor receptor 2 (FGFR2) gene. The purpose of this paper was to report a case of Apert syndrome, with ...
rec_pub_19186770-apert-syndrome-report-case-emphasis-craniofacial-genetic-features.htm

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