[Congenital spondylo-epiphysial dysplasia. A case with histological findings (author's transl)].
We have reported on an infant suffering from congenital spondylo-epiphysial dysplasia, in whom the autosomally dominant affliction could already be perceived in the baby's age by the relevant affection of the spine and of the proximal epiphyses. Firstly, it should be tried to stop the progredient kyphoscoliosis by a circular brace. A significantly increased mucopolysaccharide separation could biochemically not be stated in 24 h-urine. Gasser cells could not be found in the lymphocytes as proved by Spranger and Wiedmann in five of six patients. The histological investigation of the biopsy material, taken from the posterior iliac crest, resulted in a desmale ossification process which is atypical for this region.
D002675:Child, Preschool; D004838:Epiphyses / Q000000981:diagnostic imaging; D006801:Humans; D008297:Male; D009085:Mucopolysaccharidosis IV / Q000000981:diagnostic imaging / Q000473:pathology*; D011859:Radiography; D012600:Scoliosis / Q000517:prevention & control; D013131:Spine / Q000000981:diagnostic imaging
Angeborene spondylo-epiphysäre Dysplasie. Ein Fall mit histologischem Befund.