Radial ray aplasia and renal anomalies in father and son: A new syndrome

S. Sofer, J. Bar Ziv, D. Abeliovich

Research output: Contribution to journalArticlepeer-review

12 Scopus citations

Abstract

The authors describe a father and his son with bilateral absence of radius and thumb. Both have short stature, external ear malformation, and renal anomaly. In the son a high frequency of chromosome breaks in lymphocytes was found. They compare this familial syndrome to Fanconi anemia and other radial ray aplasia syndromes and conclude that they are dealing with a different entity, which apparently is inherited as a dominant trait.

Original languageEnglish
Pages (from-to)151-157
Number of pages7
JournalAmerican Journal of Medical Genetics
Volume14
Issue number1
DOIs
StatePublished - 1 Jan 1983
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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