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- W2132287278 abstract "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." @default.
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- W2132287278 date "2005-01-01" @default.
- W2132287278 modified "2023-09-23" @default.
- W2132287278 title "Malpuech syndrome: Three patients and a review" @default.
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- W2132287278 doi "https://doi.org/10.1002/ajmg.a.30662" @default.
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