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Unexplained diarrhea and failure to thrive in 2 siblings with unusual facies and abnormal scalp hair shafts a new syndrome

, : Unexplained diarrhea and failure to thrive in 2 siblings with unusual facies and abnormal scalp hair shafts a new syndrome. Archives of Disease in Childhood 57(3): 212-216

A family is described in which 2 siblings born to healthy parents presented with abnormal facies, persistent diarrhea 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 microscopic examination; this fact and the clinical picture probably represent a new syndrome.


PMID: 7073301

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