| Literature DB >> 7924855 |
B Stanković1, V Krstić, B Stankov, L Jojić, M Nagulić, G Artiko.
Abstract
A family with 15 individuals in four successive generations affected by Jackson-Weiss syndrome, craniosynostosis with Crouzon-variant-like phenotype and feet's abnormalities, is presented. An autosomal dominant inheritance pattern with complete penetrance, variable expressivity, and wide intrafamilial variation, more among, less within the same generation, was observed. Concerning the frequency and severity of complications, the evolution of craniofacial deformities seems to parallel those described with Crouzon syndrome, suggesting the similar evaluation and management.Entities:
Mesh:
Year: 1994 PMID: 7924855 DOI: 10.1007/bf01664936
Source DB: PubMed Journal: Doc Ophthalmol ISSN: 0012-4486 Impact factor: 2.379