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J Med Genet. 1992 November; 29(11): 831–833.
PMCID: PMC1016183

Lethal skeletal dysplasia owing to double heterozygosity for achondroplasia and spondyloepiphyseal dysplasia congenita.

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.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.
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