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Malpuech syndrome: three patients and a review.

Kerstjens-Frederikse WS, Brunner HG, van Dael CM, van Essen AJ

Department of Clinical Genetics, University Medical Centre Groningen, The Netherlands. w.s.kerstjens@medgen.umcg.nl

We describe three patients with Malpuech syndrome from two families. Previously, 10 patients from 6 families have been reported. Consanguinity in two families suggests autosomal recessive inheritance. Growth retardation, mental retardation, cleft lip, and/or palate, hypertelorism, urogenital abnormalities, and caudal appendage are the key features. Although the spectrum of the features in the reported patients is variable, we do think this syndrome represents a distinct entity. Chromosomal anomalies should be carefully searched for. We discuss differential diagnosis and possible candidate genes and propose diagnostic criteria for Malpuech syndrome.

Published 26 April 2005 in Am J Med Genet A, 134(4): 450-3.
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