Asphyxiating thoracic dysplasia. Clinical, radiological, and pathological information on 10 patients.
Review of 10 cases of asphyxiating thoracic dysplasia has shown a wide range of clinical effects and some variability in the radiographic features. Respiratory difficulty was severe in 7 babies and lethal in 6 of these. The seventh child is remarkable for his normal stature and excellent health at 15 years of age. 3 babies had no respiratory difficulty but 2 of them subsequently died of renal failure; one remains alive at 3 years. Microscopical abnormalities in the liver and kidneys were very frequent and appeared to increase progressively with age.
D000293:Adolescent; D001237:Asphyxia / Q000209:etiology*; D001848:Bone Diseases, Developmental / Q000150:complications* / Q000000981:diagnostic imaging / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D004613:Ellis-Van Creveld Syndrome / Q000175:diagnosis; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases; D007668:Kidney / Q000473:pathology; D007674:Kidney Diseases / Q000209:etiology; D008099:Liver / Q000473:pathology; D008297:Male; D011859:Radiography; D013909:Thorax / Q000002:abnormalities*