Osteopathia striata with cranial sclerosis: Variable expressivity in a four generation pedigree
1996; Wiley; Volume: 63; Issue: 1 Linguagem: Inglês
10.1002/(sici)1096-8628(19960503)63
ISSN1096-8628
AutoresRainer König, Christof Dukiet, Andrea Dörries, Bernhard Zabel, Sigrun Fuchs,
Tópico(s)Wnt/β-catenin signaling in development and cancer
ResumoOsteopathia striata is a manifestation of several bone dysplasias. In association with cranial sclerosis it represents a separate entity, which is not limited to the bones but may affect other structures, leading to abnormal face, cleft palate, deafness, heart defects, and vertebral anomalies. Neurological findings range from normal development to marked retardation with hydrocephalus, cranial nerve deficiencies and deafness. Ten families, including our own, clearly demonstrate autosomal dominant inheritance with female preponderance and great inter- and intrafamilial variability. © 1996 Wiley-Liss, Inc.
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