The severe recessive form of pseudoachondroplastic dysplasia
- 1 January 1975
- journal article
- case report
- Published by Springer Nature in Pediatric Radiology
- Vol. 3 (3) , 169-175
- https://doi.org/10.1007/bf01006905
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.Keywords
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