Weissenbacher-Zweymuller syndrome: A distinct autosomal recessive skeletal dysplasia

J. Chemke, R. Carmi, A. Galil, Y. Bar-Ziv, I. Ben-Ytzhak, L. Zurkowski

Research output: Contribution to journalArticlepeer-review

12 Scopus citations

Abstract

The Weissenbacher-Zweymuller syndrome (WZS) is defined as congenital neonatal rhizomelic dwarfism with metaphyseal widening of the long bones and vertebral coronal clefts. Catch-up growth after 2-3 years is one of the striking manifestations. It is generally thought that WZS is a neonatal expression of the Stickler syndrome, even though in the latter, myopia, retinal detachment and a progressive metaphyseal dysplasia are characteristics that are not found in WZS. A critical analysis of all published patients with WZS in addition to 5 patients in 3 new families, shows that the WZS is a distinct syndrome of delayed skeletal maturation, different from the Stickler syndrome, and inherited as an autosomal recessive trait. The recognition of its unique characteristics has important implications in genetic counseling.

Original languageEnglish
Pages (from-to)989-995
Number of pages7
JournalAmerican Journal of Medical Genetics
Volume43
Issue number6
DOIs
StatePublished - 1 Jan 1992
Externally publishedYes

Keywords

  • WZS
  • autosomal recessive inheritance
  • rhizomelic dwarfism
  • skeletal dysplasia

ASJC Scopus subject areas

  • Genetics(clinical)

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