Article
Intractable infant diarrhea associated with phenotypic abnormalities and immunodeficiency.
The Journal of pediatrics - 1 Jul 1994
Girault D, Goulet O, Le Deist F, Brousse N, Colomb V, Césarini J P, de Potter S, Canioni D, Griscelli C, Fischer A
Abstract excerpt
We report on eight children with severe diarrhea beginning in the first 6 months of life (< 1 month in six cases), who had a number of features in common. All were small for gestational age and had an abnormal phenotype, including facial dysmorphism, hypertelorism, and woolly, easily removable hair with trichorhexis nodosa. Two were products of consanguineous marriages. Severe secretory diarrhea persisted despite...
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