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Revue de médecine périnatale

, Volume 9, Issue 3, pp 189–192 | Cite as

Syndrome de Klein-Waardenburg : à propos d’une nouvelle observation et revue de la littérature

  • A. Es-Seddiki
  • S. Dikhaye
  • N. Benajiba
Mise au Point / Update
  • 18 Downloads

Résumé

Le syndrome de Waardenburg est un syndrome rare, décrit et individualisé pour la première fois en 1951. C’est un syndrome autosomique dominant caractérisé par une dystopie des canthi internes, un élargissement de la base du nez, un trouble de la pigmentation et une surdité neurosensorielle. L’incidence de ce syndrome est de 1 sur 270 000 naissances, et la prévalence a été estimée entre 1,44 et 2,05 pour 100 000 dans la population générale. Quatre sous-types (1 à 4) ont été décrits avec une pénétrance et des signes cliniques variables. Nous rapportons l’observation originale d’un nouveau-né avec un syndrome de Waardenburg de type 3 associé à une cardiopathie. C’est la deuxième description d’une telle association depuis 1990.

Mots clés

Klein-Waardenburg Mèche frontale blanche Cardiopathie 

Klein-Waardenburg syndrome: Report of a new case and literature review

Abstract

Waardenburg syndrome is a rare syndrome described and individualized at the first time in 1951. This is an autosomal dominant syndrome characterized by internal canthal dystopia, a broadening of the base of the nose, pigmentation disorders, and sensorineural hearing loss. The incidence of this syndrome is 1 in 270,000 births and prevalence was estimated between 1.44 and 2.05 per 100,000 in general population. Four subtypes (1–4) have been described with variable penetrance and clinical signs. We report the original observation of a newborn with a type III Waardenburg syndrome associated with heart disease. This is the second description of such association since 1990.

Keywords

Klein-Waardenburg White hair forelock Heart disease 

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Copyright information

© Lavoisier 2017

Authors and Affiliations

  1. 1.Service de pédiatrie, CHU Mohamed-VI, faculté de médecine et de pharmacie d’Oujdauniversité Mohammed-PremierOujdaMaroc
  2. 2.Service de dermatologie, CHU Mohamed-VI, faculté de médecine et de pharmacie d’Oujdauniversité Mohammed-PremierOujdaMaroc

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