Literature DB >> 10893667

Osteopathia striata with cranial sclerosis: literature reappraisal argues for X-linked inheritance.

C Behninger1, H D Rott.   

Abstract

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.

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Year:  2000        PMID: 10893667

Source DB:  PubMed          Journal:  Genet Couns        ISSN: 1015-8146


  4 in total

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2.  Mosaicism in osteopathia striata with cranial sclerosis.

Authors:  Dennis J Joseph; Shoji Ichikawa; Michael J Econs
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Review 4.  WTX R353X mutation in a family with osteopathia striata and cranial sclerosis (OS-CS): case report and literature review of the disease clinical, genetic and radiological features.

Authors:  Anna Maria Zicari; Luigi Tarani; Daniela Perotti; Laura Papetti; Francesco Nicita; Natascia Liberati; Alberto Spalice; Guglielmo Salvatori; Federica Guaraldi; Marzia Duse
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  4 in total

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