Achondrogenesis type II (Langer-Saldino)--a case report.
Achondrogenesis is a lethal form of congenital chondrodystophy characterised by extreme micromelia. Definitive clinical and radiographic criteria have been established to differentiate Type II Achondrogenesis (Langer-Saldino) from type I Achondrogenesis (Parenti-Fraccaro). The mode of inheritance is autosomal recessive for both types. We are presenting a case of Type II Achondrogenesis, a still born male to consanguinous parents. The clinical features included an enlarged head, protuberant abdomen and short stubby limbs. The mother had earlier delivered two still born males presumably with similar features. Radiographic characteristics of absence of rib fractures and well ossified iliac bones with concave medial margins and absent or deficient ossification of the sacrum, ischiae, and pubic bones differentiated Type II Achondrogenesis from Type I Achondrogenesis.
Swar
M O
MO
Al Mouwasat Medical Services, Kingdom of Saudi Arabia.
Srikrishna
B V
BV
D000130:Achondroplasia / Q000145:classification / Q000151:congenital / Q000000981:diagnostic imaging / Q000235:genetics; D003241:Consanguinity; D003937:Diagnosis, Differential; D005313:Fetal Death / Q000209:etiology; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011859:Radiography