Donnai‐Barrow syndrome: Four additional patients

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Donnai‐Barrow syndrome: Four additional patients

Chassaing, Nicolas; Lacombe, Didier; Carles, Dominique; Calvas, Patrick; Saura, Robert; Bieth, Eric

American journal of medical genetics. Part A, 1 September 2003, Volume: 121A, Issue: 3

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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. © 2003 Wiley‐Liss, Inc.

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