[A syndrome of congenital diabetes with disordered epiphyseal growth with autosomal recessive inheritance (author's transl)].
A child is described with insulin dependent diabetes of neonatal onset and a disorder of endochondral growth. Radiological and histological bone appearances differ from those observed in other types of chondrodysplasia. The association of diabetes and chondrodysplasia is not likely to occur by chance but is probably a genuine clinical entity. The condition is probably inherited as a autosomal recessive and its possible pathogenesis is discussed.
D002648:Child; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D003922:Diabetes Mellitus, Type 1 / Q000151:congenital / Q000235:genetics*; D004838:Epiphyses / Q000002:abnormalities*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D013577:Syndrome
Syndrome de transmission récessive autosomique, associant un diabète congénital et des désordres de la croissance des épiphyses.