ISSN:
1573-2622
Schlagwort(e):
Craniosynostosis
;
Foot abnormalities
Quelle:
Springer Online Journal Archives 1860-2000
Thema:
Medizin
Notizen:
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.
Materialart:
Digitale Medien
URL:
http://dx.doi.org/10.1007/BF01664936
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