Osteopathia striata with cranial sclerosis: literature reappraisal argues for X-linked inheritance
Behninger, C.; Rott, H.D.
Genetic Counseling 11(2): 157-167
2000
ISSN/ISBN: 1015-8146 PMID: 10893667 Document Number: 512545
Osteopathia striata with cranial sclerosis (OS-CS) is characterized by linear striations of tubular bones and fan-shaped configurations of the ilia. Although referred in literature as an autosomal dominant disorder the clinical pattern of partial involvement as well as the reported family observations plead for X-linked inheritance with mild striated bone affections in carrier women and severe syndromic morbidity and high mortality in the males. Sporadic affected males are probably somatic mosaics. There is no proven father-son transmission. Symptomatic osteopathia striata (OS) is characteristic in X-linked focal dermal hypoplasia Goltz-Gorlin.