Homozygous achondroplasia with survival beyond infancy.
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.
D000130:Achondroplasia / Q000150:complications / Q000235:genetics* / Q000401:mortality; D002675:Child, Preschool; D005260:Female; D005500:Follow-Up Studies; D005799:Genes, Dominant; D006720:Homozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D012127:Respiratory Distress Syndrome, Newborn / Q000150:complications