Wolcott-Rallison syndrome: diabetes mellitus and spondyloepiphyseal dysplasia.

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.

• Authors: H Stöss, H J Pesch, B Pontz, A Otten, J Spranger
• Journal: European journal of pediatrics (Eur J Pediatr) Vol. 138 Issue 2 Pg. 120-9 (Mar 1982) ISSN: 0340-6199 [Print] Germany
• PMID: 7094931 (Publication Type: Case Reports, Journal Article)

Chemical References

• Collagen

Topics

• Biopsy
• Bone Diseases, Developmental (complications, pathology)
• Bone and Bones (pathology)
• Cells, Cultured
• Child
• Collagen (biosynthesis)
• Diabetes Mellitus, Type 1 (complications)
• Female
• Fibroblasts (metabolism)
• Humans
• Male
• Syndrome