Acrocephaly and Acrocephalosyndactyly

Apert syndrome: A case report and review of the literature

Apert syndrome is the rare acrocephalosyndactyly syndrome type 1, characterized by craniosynostosis, severe syndactyly of hands and feet, and dysmorphic facial features. It demonstrates autosomal dominant inheritance assigned to mutations in the fibroblast growth factor receptor gene. Presently described is case of a 19-year-old female patient diagnosed on physical examination with Apert syndro...

Orbital encephalocele associated with acrocephaly.

Evidence for Locus Heterogeneity in Acrocephalosyndactyly : A Refined Localization for the Saethre - Chotzen Syndrome Locus on Distal Chromosome 7 p - and Exclusion of Jackson - Weiss Syndrome

Craniosynostosis (premature fusion of the skull sutures) occurs as a clinically heterogeneous group of disorders, frequently involving digital abnormalities. We have previously provisionally assigned the gene for one such condition, Saethre-Chotzen syndrome (ACS III), to chromosome 7p. Linkage analysis is now reported between ACS III and dinucleotide repeat loci on distal 7p. The maximum lod sc...

An unusual form of familial acrocephalosyndactyly.

A family is described in which at least six members have an unusual form of acrocephalosyndactyly showing autosomal dominant inheritance. The most characteristic feature in the more severely affected individuals is duplication of the distal phalanx of the hallux. Review of family photographs suggests that the cosmetic outcome in apparently affected infants may be much better than anticipated.

Saethre-Chotzen syndrome (SCS) is a type of acro-cephalo-syndactyly (ACS) syndrome. ACS syndromes are a group of autosomal dominant syn- dromes, in which craniosynostosis is associated with acrocephaly and syndactyly. Main features

Saethre-Chotzen syndrome (SCS) is a type of acro-cephalo-syndactyly (ACS) syndrome. ACS syndromes are a group of autosomal dominant syndromes, in which craniosynostosis is associated with acrocephaly and syndactyly. Main features characterizing SCS, also known as ACS III, are premature fusion of the coronal sutures leading to skull deformation, facial dysmorphism, syndactyly, skeletal deformity...