Campomelic dysplasia: evidence of autosomal dominant inheritance.
case_report · Level V
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- Record sourced from PubMed, PMID 8411055.
- Also identified by PMC identifier 1016499.
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Abstract
We present a mother and daughter with clinical and radiological findings consistent with the diagnosis of campomelic dysplasia. Milder tibial bowing and significant shortening of the phalangeal bones of both hands and feet may distinguish this from the classical autosomal recessive form of the disease.
Medical subject headings
- Bone Diseases, Developmental
- Genes, Dominant
- Limb Deformities, Congenital