Metaphyseal chondrodysplasia, neutropenia, and pancreatic insufficiency presenting with respiratory distress in the neonatal period.
Two pairs of brothers suffered respiratory distress in the newborn period because their ribs were abnormally short. The diagnostic radiological features of metaphyseal chondrodysplasia appeared only in the second year. Pancreatic insufficiency and neutropenia were present. One died of overwhelming infection and his brother survived a life-threatening episode of gangrenous proctitis.
D000380:Agranulocytosis / Q000150:complications*; D001424:Bacterial Infections / Q000150:complications; D003951:Diagnostic Errors; D006801:Humans; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital; D008297:Male; D009503:Neutropenia / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics; D010009:Osteochondrodysplasias / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics; D010182:Pancreatic Diseases / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics; D011859:Radiography; D012127:Respiratory Distress Syndrome, Newborn / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics; D012272:Ribs / Q000002:abnormalities