Unexplained diarrhoea and failure to thrive in 2 siblings with unusual facies and abnormal scalp hair shafts: a new syndrome.
A family is described in which 2 siblings born to healthy parents presented with abnormal facies, persistent diarrhoea, and early death. Exhaustive pathological and biochemical investigations failed to find a cause. The scalp hair of both babies had an abnormal amino-acid composition, and presented an appearance that was unique on scanning electron microscopical examination; this fact and the clinical picture probably represents a new syndrome.
D000596:Amino Acids / Q000032:analysis; D003968:Diarrhea, Infantile / Q000235:genetics* / Q000473:pathology; D005145:Face / Q000002:abnormalities*; D005260:Female; D006197:Hair / Q000002:abnormalities* / Q000032:analysis / Q000648:ultrastructure; D006801:Humans; D007228:Infant Nutrition Disorders / Q000235:genetics*; D007231:Infant, Newborn; D008297:Male; D012535:Scalp; D013577:Syndrome
D000596:Amino Acids