title: Variability of the Holt-Oram syndrome in Saudi individuals.
abstract: We studied three families in which patients with the Holt-Oram syndrome (HOS) had various skeletal abnormalities and congenital heart defects. Two patients had absent thumbs and first metacarpals, hypoplastic radii, and atrial and ventricular septal defects. Patient 2 had pulmonary stenosis, an atrial septal defect, and triphalangeal thumbs. A sister had atrial septal defect and abnormalities of the thumbs; two brothers had abnormalities of the thumbs. The mother had unilateral defect of the thumb with a normal heart. The third patient had tetralogy of Fallot and hypoplastic pulmonary artery. In two families the HOS appeared to be the result of new mutations; in one it was transmitted as an autosomal dominant trait.
authors.affiliation: Department of Pediatrics, King Faisal Hospital and Research Centre, Riyadh, Saudi Arabia.
authors.forename: H
authors.initials: H
authors.lastname: Najjar
authors.forename: M
authors.initials: M
authors.lastname: Mardini
authors.forename: R
authors.initials: R
authors.lastname: Tabbaa
authors.forename: W L
authors.initials: WL
authors.lastname: Nyhan
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D001842:Bone and Bones / Q000002:abnormalities* / Q000000981:diagnostic imaging; D002648:Child; D005260:Female; D005799:Genes, Dominant; D014644:Genetic Variation; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011859:Radiography; D012529:Saudi Arabia; D013577:Syndrome; D013933:Thumb / Q000002:abnormalities* / Q000000981:diagnostic imaging