Asphyxiating thoracic dystrophy of the newborn.
A case of asphyxiating thoracic dystrophy occurring in a newborn male infant who died at 26 hours is reported. The clinical and radiographic features of this uncommon condition are discussed, together with its mode of inheritance and differential diagnosis.
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000000981:diagnostic imaging*; D001842:Bone and Bones / Q000002:abnormalities* / Q000000981:diagnostic imaging; D003937:Diagnosis, Differential; D004392:Dwarfism / Q000175:diagnosis; D004613:Ellis-Van Creveld Syndrome / Q000175:diagnosis; D006801:Humans; D007014:Hypophosphatasia / Q000175:diagnosis; D007231:Infant, Newborn; D008297:Male; D013902:Radiography, Thoracic; D012131:Respiratory Insufficiency / Q000000981:diagnostic imaging / Q000209:etiology*; D013577:Syndrome; D013909:Thorax / Q000002:abnormalities*