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

doi:10.1002/ajmg.1320160404

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

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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 language	English
Pages (from-to)	459-473
Number of pages	15
Journal	American Journal of Medical Genetics
Volume	16
Issue number	4
DOIs	https://doi.org/10.1002/ajmg.1320160404
State	Published - 1983

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title = "Homozygous achondroplasia with survival beyond infancy",

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.",

author = "Pauli, {R. M.} and Conroy, {M. M.} and Langer, {L. O.} and McLone, {D. G.} and T. Naidich and R. Franciosi and Ratner, {I. M.} and Copps, {S. C.}",

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AU - Pauli, R. M.

AU - Conroy, M. M.

AU - Langer, L. O.

AU - McLone, D. G.

AU - Naidich, T.

AU - Franciosi, R.

AU - Ratner, I. M.

AU - Copps, S. C.

PY - 1983

Y1 - 1983

N2 - 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.

AB - 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.

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AN - SCOPUS:0021012739

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JO - American Journal of Medical Genetics

JF - American Journal of Medical Genetics

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ER -

Homozygous achondroplasia with survival beyond infancy

Abstract

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