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. 1982 Mar;57(3):212–216. doi: 10.1136/adc.57.3.212

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

L Stankler, D Lloyd, R J Pollitt, E S Gray, H Thom, G Russell
PMCID: PMC1627586  PMID: 7073301

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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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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