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Case Reports
. 1975 Jun 13;3(3):169-75.
doi: 10.1007/BF01006905.

The severe recessive form of pseudoachondroplastic dysplasia

N R Dennis, P Renton
Case Reports

The severe recessive form of pseudoachondroplastic dysplasia

N R Dennis et al. Pediatr Radiol. .

Abstract

Genetic and clinical heterogeneity within the category of pseudoachondroplastic dysplasia is discussed. Clinical and radiological findings are presented in a family where 4 out of 7 siblings, aged between 3 and 10 years, had a severe form of the condition. The parents had short stature without any signs of pseudoachondroplastic dysplasia. Inheritance in this family appears to be recessive, with a possibility that the abnormal allele may be partially manifest in heterozygotes.

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