Achondrogenesis: a review with special consideration of achondrogenesis type II (Langer-Saldino).
We describe two dwarfed infants with large head, short neck and chest, prominent abdomen, and short limbs. Both died neonatally. Radiographic and morphologic characteristics identified the Langer-Saldino form of achondrogenesis (type II). Review of type II achondrogenesis documented distinctive clinical and anthropometric manifestations (fewer stillbirths, longer survival time and gestation period, larger size of the baby, longer limbs, and characteristic craniofacial features) as compared with type I achondrogenesis (Parenti-Fraccaro).
D000015:Abnormalities, Multiple / Q000235:genetics; D002875:Chromosomes / Q000648:ultrastructure; D004392:Dwarfism / Q000145:classification / Q000235:genetics*; D005804:Genes, Lethal; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D010641:Phenotype