Variability of the Holt-Oram syndrome in Saudi individuals.
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.
Najjar
H
H
Department of Pediatrics, King Faisal Hospital and Research Centre, Riyadh, Saudi Arabia.
Mardini
M
M
Tabbaa
R
R
Nyhan
W L
WL
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