Neonatal presentation of I-cell disease.
Two patients are described in whom the diagnosis of I-cell disease was established in early infancy. These patients lacked many of the clinical and radiographic features described in other children with this disorder. Differences between the neonatal and early childhood presentation of ICD are discussed.
D006615:Hip / Q000000981:diagnostic imaging; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000201:enzymology; D008297:Male; D009081:Mucolipidoses / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000201:enzymology; D010384:Pelvic Bones / Q000000981:diagnostic imaging; D011859:Radiography