Asphyxiating thoracic dystrophy (Jeune's disease): a case report.
A female infant with features of Jeune's disease is described. The pertinent clinical features were a long, narrow trunk, dystrophic rib cage with respiratory distress, short limbs, and polydactyly. Radiographically, she had only 11 pairs of short ribs which were expanded and flared anteriorly. There was a positive history of consanguinity. It is believed that she might still be alive, although no follow-up was undertaken.
Airede
A K
AK
Hammersmith Hospital, Royal Postgraduate Medical School, London.
D001238:Asphyxia Neonatorum / Q000000981:diagnostic imaging* / Q000235:genetics / Q000628:therapy; D003241:Consanguinity; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D010009:Osteochondrodysplasias; D011859:Radiography; D013909:Thorax / Q000002:abnormalities*