Lethal skeletal dysplasia owing to double heterozygosity for achondroplasia and spondyloepiphyseal dysplasia congenita.
case_report · Level V
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- Record sourced from PubMed, PMID 1453438.
- Also identified by PMC identifier 1016183.
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Abstract
A male infant with lethal short limbed dwarfism is described. His father had spondyloepiphyseal dysplasia congenita and his mother had achondroplasia. It is believed that the infant inherited both of these disorders and that their combined effects resulted in early death owing primarily to severe pulmonary hypoplasia.
Medical subject headings
- Achondroplasia
- Osteochondrodysplasias