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

doi:10.1002/ajmg.1320560203

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

Research output: Contribution to journal › Article › peer-review

3 Scopus citations

Abstract

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.

Original language	English
Pages (from-to)	132-135
Number of pages	4
Journal	American Journal of Medical Genetics
Volume	56
Issue number	2
DOIs	https://doi.org/10.1002/ajmg.1320560203
State	Published - 1995
Externally published	Yes

Keywords

autosomal recessive
club feet
familial
mental retardation
nail dysplasia
ulna hypoplasia

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10.1002/ajmg.1320560203

Cite this

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title = "Bilateral ulna hypoplasia, club feet, and mental retardation: A new mesomelic syndrome",

abstract = "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.",

keywords = "autosomal recessive, club feet, familial, mental retardation, nail dysplasia, ulna hypoplasia",

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AU - Kohn, G.

AU - Malinger, G.

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AU - Scheinfeld, A.

AU - Tepper, R.

AU - Ornoy, A.

AU - Lachman, R.

AU - Rimoin, D. L.

PY - 1995

Y1 - 1995

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AB - 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.

KW - autosomal recessive

KW - club feet

KW - familial

KW - mental retardation

KW - nail dysplasia

KW - ulna hypoplasia

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DO - 10.1002/ajmg.1320560203

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

Abstract

Keywords

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