Anal atresia and the Klein-Waardenburg syndrome.
A 3-month-old male infant with type I Klein-Waardenburg syndrome with an imperforated anus and a perineal fistula is reported. The possible association of this gastrointestinal malformation with the KW syndrome is discussed.
D000015:Abnormalities, Multiple / Q000150:complications*; D001006:Anus, Imperforate / Q000209:etiology*; D005402:Fistula / Q000209:etiology; D006801:Humans; D007223:Infant; D008297:Male; D010502:Perineum; D014849:Waardenburg Syndrome / Q000150:complications*