Journal
CLINICAL DYSMORPHOLOGY
Volume 16, Issue 4, Pages 211-221Publisher
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/MCD.0b013e328274264b
Keywords
autosomal recessive; choanal atresia; choanal stenosis; imperforate choanae; intestinal epithelial dysplasia; intractable diarrhea of infancy; syndrome; tufting enteropathy
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Funding
- NIDDK NIH HHS [T32 DK007202] Funding Source: Medline
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Three siblings are reported with a syndrome of intractable diarrhea of infancy (owing to tufting enteropathy) and choanal atresia/stenosis. Additional components of this condition are a mild shortness of stature, a prominent and broad nasal bridge, micrognathia, single palmar creases, chronic corneal inflammation, episodic cytopenia, and abnormal hair texture. Intelligence is normal, and there is no immunodeficiency distinguishing this syndrome from that reported by Girault et al. (11994). Additional features that might occur in this syndrome include bifid uvula, preauricular pits, and 2/3 toe syndactyly. We compare this syndrome with previously reported intractable diarrhea syndromes and speculate on the developmental mechanisms that could account for many of the features demonstrated by this sibship.
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