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Unexplained Diarrhoea and Failure to Thrive in 2 Siblings with Unusual Facies and Abnormal Scalp Hair Shafts: a New Syndrome

Overview
Journal Arch Dis Child
Specialty Pediatrics
Date 1982 Mar 1
PMID 7073301
Citations 22
Authors
L Stankler
D Lloyd
R J Pollitt
E S Gray
H Thom
G Russell
Affiliations
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Abstract

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.

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References
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