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[Waardenburg syndrome. Report of a familial case].
Ann Pediatr (Paris). 1990 Jan; 37(1):55-8.AP

Abstract

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.

Authors+Show Affiliations

Service de Pédiatrie Générale, Hôpital d'Enfants de Tunis, Tunisie.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
English Abstract
Journal Article

Language

fre

PubMed ID

2316963

Citation

Khaldi, F, et al. "[Waardenburg Syndrome. Report of a Familial Case]." Annales De Pediatrie, vol. 37, no. 1, 1990, pp. 55-8.
Khaldi F, Serbegi M, Mokadem H, et al. [Waardenburg syndrome. Report of a familial case]. Ann Pediatr (Paris). 1990;37(1):55-8.
Khaldi, F., Serbegi, M., Mokadem, H., Lazzem, B., & Bennaceur, B. (1990). [Waardenburg syndrome. Report of a familial case]. Annales De Pediatrie, 37(1), 55-8.
Khaldi F, et al. [Waardenburg Syndrome. Report of a Familial Case]. Ann Pediatr (Paris). 1990;37(1):55-8. PubMed PMID: 2316963.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Waardenburg syndrome. Report of a familial case]. AU - Khaldi,F, AU - Serbegi,M, AU - Mokadem,H, AU - Lazzem,B, AU - Bennaceur,B, PY - 1990/1/1/pubmed PY - 1990/1/1/medline PY - 1990/1/1/entrez SP - 55 EP - 8 JF - Annales de pediatrie JO - Ann Pediatr (Paris) VL - 37 IS - 1 N2 - 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. SN - 0066-2097 UR - https://www.unboundmedicine.com/medline/citation/2316963/[Waardenburg_syndrome__Report_of_a_familial_case]_ L2 - http://www.diseaseinfosearch.org/result/7423 DB - PRIME DP - Unbound Medicine ER -