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.
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Dedicated to Prof. Dr. H.-R. Wiedemann on the occasion of his 65th birthday
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Maroteaux, P., Stanescu, R., Stanescu, V. et al. The mild form of pseudoachondroplasia. Eur J Pediatr 133, 227–231 (1980). https://doi.org/10.1007/BF00496081
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DOI: https://doi.org/10.1007/BF00496081