Waardenburg syndrome

Waardenburg syndrome (WS) is a disorder characterized by varying degrees of deafness and minor defects in structures arising from neural crest, including pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes.

Anal atresia

Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract.


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PMID (PMCID)
3712396
 FEMALE Infant
Possible Waardenburg syndrome with gastrointestinal anomalies.
Nutman J, Steinherz R, Sivan Y, Goodman RM.
J Med Genet. 1986;23(2):175-8.
We describe a patient with possible Waardenburg syndrome associated with anal atresia and oesophageal atresia with tracheooesophageal fistula.