Homozygous achondroplasia with survival beyond infancy

R. M. Pauli, M. M. Conroy, L. O. Langer, D. G. McLone, T. Naidich, R. Franciosi, I. M. Ratner, S. C. Copps

Research output: Contribution to journalArticlepeer-review

50 Scopus citations

Abstract

Homozygous achondroplasia has been thought to be uniformly lethal in the neonatal period. We describe three children, born to achondroplastic parents, who were homozygous for this disorder but who survived beyond early infancy. Two died suddenly at 37 and 33 mo; the third survives at 29 wk. At least in some instances aggressive treatment may allow others with this condition to survive with a reasonable quality of life.

Original languageEnglish (US)
Pages (from-to)459-473
Number of pages15
JournalAmerican Journal of Medical Genetics
Volume16
Issue number4
DOIs
StatePublished - 1983

ASJC Scopus subject areas

  • Genetics(clinical)

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