Abstract

Nine members in three generations of a Chinese family were found to have Waardenburg's syndrome comprising, mainly, lateral displacement of the inner canthi, broadening of the nasal root and hypertrichosis of the eyebrows. Other minor features were also found.

Two patients had in addition, hypokalemic periodic paralysis of the familial type, one had prominent frontal bossing and another, bilateral cleft lips and palate. These associated anomalies have not been previously documented and the presence of two autosomal dominant genetic defects in this family is of particular interest.