Key result
Severe pseudoachondroplasia in a boy with consanguineous parents supports an autosomal recessive form.
Why the study?
Reports supporting the existence of an autosomal recessive form of severe pseudoachondroplasia were reviewed due to a case with parental consanguinity.
This case report provides further evidence supporting the existence of an autosomal recessive form of pseudoachondroplasia.
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Hypothesis-generating for autosomal recessive pseudoachondroplasia; leaves open validation before changing genetic counseling.
Young et al. (1985) studied this question. Severe pseudoachondroplasia in a boy with consanguineous parents supports the existence of an autosomal recessive form of the disorder.
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