Waardenburg’s syndrome and familial periodic paralysis

Abstract

Summary 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.

Waardenburg syndrome type I: Dental phenotypes and genetic analysis of an extended family

“…Bandyopadhyay and co-workers (1999) identified only dental agenesis of the lower lateral incisors in patients affected by this disorder ( 11 ). Cleft lip and/or palate have also been described in WS ( 19 , 20 ) and undefined jaw malformations and mandibular prognathism were described as possibly being related to WS ( 10 - 12 ). Irregular teeth, abnormalities of the tooth enamel (not specified), a high palate and a fissured tongue also have been included as part of the clinical spectrum of the oral manifestations of patients affected by the syndrome ( 21 , 22 ).…”

Waardenburg I syndrome: A clinical and genetic study of two large Brazilian kindreds, and literature review

“…Numerous anomalies were reported in association with WS. Some of them, like cleft lip/palate [Waardenburg, 1951;Hansen et al, 1965;Goldberg, 1966;Reed et al, 1967;Roux et al, 1970;Pryor, 1971;Tay, 1971;Lessa and Carreirho, 1981;De Saxe et al, 1984al andHirschsprung's disease [McKusick, 1973;Branski et al, 1979;Fried and Beer, 1980;Woodyear et al, 1980;Kelley and Zackai, 1981;Shah et al, 1981;Ambani, 1983;Farndon and Bianchi, 1983;Meire et al, 19871, are more frequently observed in isolated case reports.…”