Homozygous achondroplasia with survival beyond infancy.
Am J Med Genet
; 16(4): 459-73, 1983 Dec.
Article
em En
| MEDLINE
| ID: mdl-6660245
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.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Acondroplasia
/
Genes Dominantes
Tipo de estudo:
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Limite:
Child, preschool
/
Female
/
Humans
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Infant
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Male
/
Newborn
Idioma:
En
Revista:
Am J Med Genet
Ano de publicação:
1983
Tipo de documento:
Article