Wolcott-Rallison syndrome: Diabetes mellitus and spondyloepiphyseal dysplasia

H. Stöß, H. J. Pesch, B. Pontz, A. Otten, J. Spranger

Publikation: Beitrag in FachzeitschriftArtikelBegutachtung

61 Zitate (Scopus)

Abstract

In 1972, Wolcott and Rallison described three siblings with a combination of infancy-onset diabetes mellitus and multiple epiphyseal dysplasia. We have observed a brother and sister with the same disorder. The chondro-osseous lesions are those of a spondylo-epiphyseal dysplasia. The diabetes mellitus is relatively mild. Histologic and electron microscopic studies of chondro-osseous tissue show findings similar to those in other epiphyseal and spondylo-epiphyseal dysplasias. In addition, however, atypical collagen-like fibres are found inside and outside chondrocytes. Collagen production seems to be normal in cultured fibroblasts. From the available data it appears that the association of characteristic chondro-osseous and endocrine abnormalities is non-random and that the lesions are independent manifestations of a pleiotropic gene. We propose to call this disorder the Wolcott-Rallison Syndrome.

OriginalspracheEnglisch
Seiten (von - bis)120-129
Seitenumfang10
FachzeitschriftEuropean Journal of Pediatrics
Jahrgang138
Ausgabenummer2
DOIs
PublikationsstatusVeröffentlicht - März 1982
Extern publiziertJa

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