Possible Waardenburg syndrome with gastrointestinal anomalies

• Published in: Journal of medical genetics Vol. 23; no. 2; pp. 175 - 178
• Main Authors: Nutman, J, Steinherz, R, Sivan, Y, Goodman, R M
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group Ltd 01.04.1986; BMJ; BMJ Publishing Group LTD
• Subjects: Abnormalities, Multiple - diagnosis; Anus, Imperforate - complications; Biological and medical sciences; Complex syndromes; Digestive System Abnormalities; Esophageal Atresia - complications; Female; Humans; Infant; Medical genetics; Medical sciences; Tracheoesophageal Fistula - complications; Waardenburg Syndrome - complications; Waardenburg Syndrome - diagnosis; Human; Congenital; Tracheoesophageal; Esophagea; Fistula; Esophagus; Eye disease; Anus; Malformation; Waardenburg syndrome; Atresia; Digestive diseases; ENT disease; New born; Complex syndrome; Anorectal disease
• ISSN: 0022-2593; 1468-6244; 1468-6244
• DOI: 10.1136/jmg.23.2.175

We describe a patient with possible Waardenburg syndrome associated with anal atresia and oesophageal atresia with tracheooesophageal fistula. Three other published cases with atretic gastrointestinal anomalies associated with the Waardenburg syndrome are reviewed. We conclude that the association between atretic lesions of the gastrointestinal tract and the Waardenburg syndrome may be a significant one.