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Donnai‐Barrow syndrome: Four additional patients
Author(s) -
Chassaing Nicolas,
Lacombe Didier,
Carles Dominique,
Calvas Patrick,
Saura Robert,
Bieth Eric
Publication year - 2003
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.20266
Subject(s) - hypertelorism , sibling , medicine , sensorineural deafness , pediatrics , diaphragmatic hernia , inheritance (genetic algorithm) , hernia , genetics , audiology , anatomy , biology , psychology , hearing loss , surgery , developmental psychology , gene
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.