Unexplained diarrhoea and failure to thrive in 2 siblings with unusual facies and abnormal scalp hair shafts: a new syndrome. Issue 3 (March 1982)

• Record Type: Journal Article
• Authors: Stankler, L; Lloyd, D; Pollitt, R J; Gray, E S; Thom, H; Russell, G
• Is Part Of: Archives of disease in childhood. Volume 57:Issue 3(1982)
• Page Start: 212
• Page End: 216
• Publication Date: 1982-03
• Subjects: Children -- Diseases -- Periodicals; Infants -- Diseases -- Periodicals; 618.920005
• DOI: 10.1136/adc.57.3.212
• Languages: English
• ISSNs: 0003-9888

Abstract

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.