Osteopathia striata with cranial sclerosis: highly variable phenotypic expression within a family.

doi:10.1111/j.1399-0004.1997.tb02547.x

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Article

Osteopathia striata with cranial sclerosis: highly variable phenotypic expression within a family.

Clinical genetics - 1 Oct 1997

Savarirayan R, Nance J, Morris L, Haan E, Couper R

Abstract excerpt

We report a four-generation family, with five individuals affected by osteopathia striata with cranial sclerosis (OS-CS). The family illustrates the wide spectrum of gene expression in this autosomal dominant condition. Of particular note is the unusually severe expression in the proband, who exh...

Topics

Abnormalities, Multiple
Adult
Anal Canal
Craniofacial Dysostosis
Dysostoses
Female
Fetal Diseases
Heart Septal Defects
Holoprosencephaly
Humans
Infant, Newborn
Kidney
Male
Pedigree
Phenotype
Pregnancy
Radiography
Syndactyly

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