title: Osteopathia striata with cranial sclerosis: highly variable phenotypic expression within a family.
abstract: 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 exhibits virtually all of the reported associations of the syndrome. Proximal osteolysis of the fibula and congenital urological abnormalities, in the proband, and holoprosencephaly sequence, in the proband's sister, have not previously been described in the syndrome.
authors.affiliation: Department of Medical Genetics, Women's and Children's Hospital, North Adelaide, South Australia.
authors.forename: R
authors.initials: R
authors.lastname: Savarirayan
authors.forename: J
authors.initials: J
authors.lastname: Nance
authors.forename: L
authors.initials: L
authors.lastname: Morris
authors.forename: E
authors.initials: E
authors.lastname: Haan
authors.forename: R
authors.initials: R
authors.lastname: Couper
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D001003:Anal Canal / Q000002:abnormalities; D003394:Craniofacial Dysostosis / Q000235:genetics; D004413:Dysostoses / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging / Q000235:genetics; D006343:Heart Septal Defects / Q000235:genetics*; D016142:Holoprosencephaly / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities; D008297:Male; D010375:Pedigree; D010641:Phenotype; D011247:Pregnancy; D011859:Radiography; D013576:Syndactyly / Q000235:genetics; D014463:Ultrasonography