A new family with the hand foot genital syndrome: a wider spectrum of the hand foot uterus syndrome

A. K. Poznanski, L. R. Kuhns, J. Lapides, A. M. Stern

Research output: Contribution to journalArticlepeer-review

17 Scopus citations

Abstract

The hand foot uterus syndrome was described by Stern et al as a dominantly inherited disorder seen in 13 members of 4 generations in a single kindred. In the original family the characteristics of the syndrome included malformations of the hands and feet and varying degrees of duplication of the female genital tract. Recent data suggest that the spectrum of this syndrome is wider than originally conceived and the authors therefore suggest the name 'hand foot genital syndrome'. It may be that some patients with this syndrome may have only hand and foot manifestations without significant GU problems. Certainly most of the males have little or no problem with their urinary tract. The technique of pattern profile analysis may be useful in the evaluation and detection of these cases. The patterns of this syndrome are very different from other congenital malformation syndromes. The patterns of the campomelique syndrome, myositis ossificans progressiva, and the oculodentodigital syndrome show significant similarity in patterns, but the 3 conditions are easily distinguished clinically from the hand foot uterus syndrome.

Original languageEnglish (US)
Pages (from-to)127-135
Number of pages9
JournalBirth Defects: Original Article Series
Volume11
Issue number4
StatePublished - Dec 1 1975

ASJC Scopus subject areas

  • Developmental Biology
  • Genetics(clinical)

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