Bilateral ulna hypoplasia, club feet, and mental retardation: a new mesomelic syndrome.

G Kohn,G Malinger,R el Shawwa,A Scheinfeld, R Tepper,A Ornoy, R Lachman, D L Rimoin

AMERICAN JOURNAL OF MEDICAL GENETICS（1995）

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摘要

We report on 2 sibs with a previously unreported type of mesomelia of the upper limbs due to ulnar hypoplasia. Prenatal diagnosis was made by ultrasound during one pregnancy and an affected fetus was confirmed. This family documents a previously unreported autosomal recessive syndrome. (C) 1995 Wiley-Liss, Inc.

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关键词

ULNA HYPOPLASIA,CLUB FEET,NAIL DYSPLASIA,MENTAL RETARDATION,FAMILIAL,AUTOSOMAL RECESSIVE

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