A new syndrome of tufting enteropathy and choanal atresia, with ophthalmologic, hematologic and hair abnormalities.
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. (1994). 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.
Bird
Lynne M
LM
Rady Children's Hospital San Diego, California 92123, USA. lbird@rchsd.org
Sivagnanam
Mamata
M
Taylor
Sharon
S
Newbury
Robert O
RO
D000015:Abnormalities, Multiple / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D002754:Choanal Atresia / Q000473:pathology*; D005128:Eye Diseases / Q000473:pathology*; D005260:Female; D006201:Hair Diseases / Q000473:pathology*; D006402:Hematologic Diseases / Q000473:pathology*; D006801:Humans; D007223:Infant; D007410:Intestinal Diseases / Q000473:pathology*; D007413:Intestinal Mucosa / Q000473:pathology; D008297:Male; D010375:Pedigree; D013577:Syndrome