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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.


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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  • Wynne-Davies R, Hall C. Two clinical variants of spondylo-epiphysial dysplasia congenita. J Bone Joint Surg Br. 1982;64(4):435–441. [PubMed]
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  • Murray LW, Bautista J, James PL, Rimoin DL. Type II collagen defects in the chondrodysplasias. I. Spondyloepiphyseal dysplasias. Am J Hum Genet. 1989 Jul;45(1):5–15. [PubMed]
  • Ogilvie D, Wordsworth P, Thompson E, Sykes B. Evidence against the structural gene encoding type II collagen (COL2A1) as the mutant locus in achondroplasia. J Med Genet. 1986 Feb;23(1):19–22. [PMC free article] [PubMed]
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