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 journalArticlepeer-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 languageEnglish
Pages (from-to)132-135
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume56
Issue number2
DOIs
StatePublished - 1995
Externally publishedYes

Keywords

  • autosomal recessive
  • club feet
  • familial
  • mental retardation
  • nail dysplasia
  • ulna hypoplasia

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