Lethality in Desbuquois dysplasia: three new cases.
Three new cases of Desbuquois syndrome in two brothers and a sporadic male, all of whom died in early infancy, are presented to emphasize the high rate (33 %) of lethality in this variable, but serious skeletal dysplasia. Including the three presented patients and 10 of the 36 cases in the literature who died, most did so between birth and 7 months and from respiratory-related problems. Neonatal and infancy survivors should be monitored closely, particularly relative to their pulmonary status.
Hall
B D
BD
Department of Pediatrics, University of Kentucky College of Medicine, Lexington 40536-0284, USA. bdh@pop.uky.edu
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging*; D001847:Bone Diseases / Q000000981:diagnostic imaging*; D004392:Dwarfism / Q000000981:diagnostic imaging*; D017809:Fatal Outcome; D006801:Humans; D007231:Infant, Newborn; D007593:Joint Instability / Q000000981:diagnostic imaging*; D008297:Male; D009999:Ossification, Heterotopic / Q000000981:diagnostic imaging*; D011859:Radiography; D013577:Syndrome