Case Reports
doi: 10.1007/BF01006905.
The severe recessive form of pseudoachondroplastic dysplasia
- PMID: 1233433
- DOI: 10.1007/BF01006905
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Case Reports
The severe recessive form of pseudoachondroplastic dysplasia
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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