title: Parental consanguinity in two sibs with omodysplasia.
abstract: Two sibs with omodysplasia were born to phenotypically normal but consanguineous parents. They had severe micromelic dwarfism, facial anomalies, and mental retardation. One had a congenital heart defect. The radiographic findings are typical: hypoplastic distal end of the humerus with radioulnar diastasis. Parental consanguinity and clinical manifestations in 2 sibs suggest autosomal recessive inheritance.
authors.affiliation: Department of Clinical Genetics, Dérerova nemocniaca, Bratislava, Slovakia.
authors.forename: A
authors.initials: A
authors.lastname: Baxová
authors.forename: P
authors.initials: P
authors.lastname: Maroteaux
authors.forename: J
authors.initials: J
authors.lastname: Barosová
authors.forename: I
authors.initials: I
authors.lastname: Netriová
mesh_terms: D000328:Adult; D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D003241:Consanguinity; D004392:Dwarfism / Q000235:genetics; D005145:Face / Q000002:abnormalities; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D006811:Humerus / Q000002:abnormalities* / Q000000981:diagnostic imaging; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D010375:Pedigree; D011859:Radiography