Wolcott-Rallison syndrome: diabetes mellitus and spondyloepiphyseal dysplasia

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 mellitu...

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Bibliographic Details
Published in:European journal of pediatrics 1982-03, Vol.138 (2), p.120-129
Main Authors: Stöss, H, Pesch, H J, Pontz, B, Otten, A, Spranger, J
Format: Article
Language:English
Subjects:
Biopsy
Bone and Bones - pathology
Bone Diseases, Developmental - complications
Bone Diseases, Developmental - pathology
Cells, Cultured
Child
Collagen - biosynthesis
Diabetes Mellitus, Type 1 - complications
Female
Fibroblasts - metabolism
Humans
Male
Syndrome
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Summary: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.
ISSN:0340-6199
1432-1076
DOI:10.1007/BF00441137