Donnai-Barrow syndrome: four additional patients.
In 1993, Donnai and Barrow reported a new syndrome in two sets of sibs and in an unrelated child, including diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness. Since then, only four similar patients have been documented. We describe four additional patients, including two sibling pairs from healthy parents. This report firmly establishes this syndrome as a distinct clinical entity and provides further evidence for its previously postulated autosomal recessive inheritance.
Chassaing
Nicolas
N
Service de génétique médicale, Hôpital Purpan, Toulouse, France.
Lacombe
Didier
D
Carles
Dominique
D
Calvas
Patrick
P
Saura
Robert
R
Bieth
Eric
E
D000328:Adult; D061085:Agenesis of Corpus Callosum; D003964:Diaphragm / Q000002:abnormalities / Q000473:pathology; D005145:Face / Q000002:abnormalities; D005260:Female; D005808:Genes, Recessive; D006319:Hearing Loss, Sensorineural / Q000235:genetics; D006554:Hernia, Umbilical / Q000235:genetics*; D006801:Humans; D006972:Hypertelorism / Q000235:genetics*; D007231:Infant, Newborn; D008297:Male; D009216:Myopia / Q000235:genetics; D011247:Pregnancy; D013577:Syndrome