title: Donnai-Barrow syndrome: four additional patients.
abstract: 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.
authors.affiliation: Service de génétique médicale, Hôpital Purpan, Toulouse, France.
authors.forename: Nicolas
authors.initials: N
authors.lastname: Chassaing
authors.forename: Didier
authors.initials: D
authors.lastname: Lacombe
authors.forename: Dominique
authors.initials: D
authors.lastname: Carles
authors.forename: Patrick
authors.initials: P
authors.lastname: Calvas
authors.forename: Robert
authors.initials: R
authors.lastname: Saura
authors.forename: Eric
authors.initials: E
authors.lastname: Bieth
mesh_terms: 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