All issues > Volume 31(5); 1988

Original Article

J Korean Pediatr Soc. 1988;31(5):655-659. Published online May 31, 1988.

Waardenburg's Syndrome in a Boy and Mother.

D H Kim¹, M Y Kim¹, C S Suh¹, S Y Kim¹, J Y Jung¹

¹Department of Pediatrics, Hae Sung Hospital

Received: December 2, 1987;  Accepted: August 10, 1988.

Abstract

Waardenburg's syndrome is a rare autosomal dominant disorder which is characterized by (1) lateral displacement of the medial canthi of the eyes and the inferior lacrimal puncta. (2) a broad, prominent root of the nose (3) hyperplasia of the medial portions of the eyebrows (4) white or grey forelock (5) partial or total heterochromia of the irides and (6) deaf-mutism. The authors experienced 2 patients of this syndrome who were a boy and his mother. The boy was 3 years old and showed the lateral displacement of the medial canthi of the eyes, light blue eyes, hyperplasia of the medial portions of the eyebrows, broad root of the nose, and congenital deafness. The mother was 31 years old and showed the heterochromia of the irides, the lateral displacement of the medical canthi of the eyes, the broad root of the nose and white forelock. The review of the related literature was made briefly.

Keywords :Waardenburgs Syndrome.