Weissenbacher-Zweymüller phenotype

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The Weissenbacher-Zweymüller phenotype is a complex of symptoms consisting of short stature with clumsy tubular bones and an additional Pierre Robin sequence resulting from prenatal growth disorders. All of these findings can be found in several hereditary bone diseases.

Synonyms

  • Pierre Robin syndrome with fetal chondrodysplasia
  • Weissenbacher-Zweymüller Syndrome (WZS)

Differential diagnosis

The differentiation from the similar otospondylo-megaepiphyseal dysplasia (OSMED), according to the first publication in 1964, can be difficult. Apparently, however, the syndromes are not identical.

literature

  • G. Weissenbacher, E. Zweymüller: Simultaneous occurrence of a syndrome of Pierre Robin and a fetal chondrodysplasia. In: Mschr Kinderheilk. 1964; 112, pp. 315-317.

Individual evidence

  1. ↑ OSMED.  In: Online Mendelian Inheritance in Man . (English)
  2. ↑ Weissenbacher-Zweymüller.  In: Online Mendelian Inheritance in Man . (English)