The mild form of pseudoachondroplasia |
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| Authors: | P Maroteaux R Stanescu V Stanescu G Fontaine |
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| Institution: | (1) Hôpital des Enfants-Malades, 149, Rue de Sèvres, 75730 Paris Cedex 15, France;(2) Centre Hospitalier Régional de Lille, France |
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| Abstract: | A 9-year-old boy from an incestuous union presented with mild clinical and roentgenological manifestations of pseudoachondroplasia. Tibial growth cartilage was obtained during a routine orthopedic procedure. Microscopic, histochemical and biochemical analysis showed changes identical to those of 6 sporadic cases of typical pseudoachondroplasia. The results support a concept of pathogenetic homogeneity of pseudoachondroplasia.Dedicated to Prof. Dr. H.-R. Wiedemann on the occasion of his 65th birthday |
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| Keywords: | Pseudoachondroplasia Electron-microscopy Histochemistry Collagen Proteoglycans |
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