[Waardenburg syndrome. Report of a familial case].
We report a familial case of Waardenburg syndrome. A four and a half year old boy had displacement of the canthi, a white forelock, perceptive deafness, and a congenital heart defect. The mother and younger brother had the same syndrome. Usually, cases of Waardenburg syndrome are divided into types I and II according to whether lateral displacement of the inner canthi is present or absent. Uni or bilateral perceptive deafness is found in 13 to 28% of type I cases and 53% of type II cases. The white forelock is a feature in 30% of cases and should suggest the diagnosis. Several other abnormalities have been reported in this syndrome. Inheritance of Waardenburg syndrome is autosomal dominant with variable penetrance. We discuss the possibility that one or both of the children we report were homozygous for a dominant gene.
Khaldi
F
F
Service de Pédiatrie Générale, Hôpital d'Enfants de Tunis, Tunisie.
Serbegi
M
M
Mokadem
H
H
Lazzem
B
B
Bennaceur
B
B
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002675:Child, Preschool; D003241:Consanguinity; D005260:Female; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D014849:Waardenburg Syndrome / Q000235:genetics* / Q000473:pathology
Syndrome de Waardenburg. A propos d'une observation familiale.