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

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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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Références

  1. 1.
    Waardenburg P (1951) A new syndrome combining development anomalies of eyelids, eyebrows and nose root with pigmentary defects of iris and head hair and with congenital deafness. Am J Hum Genet 3:195–253PubMedPubMedCentralGoogle Scholar
  2. 2.
    Arias S (1971) Genetic heterogeneity in the Waardenburg syndrome. Birth Defects Orig Artic Ser 7:87–101Google Scholar
  3. 3.
    Mouriaux F, Hamedani M, Hurbli T (1999) Le syndrome de Waardenburg. J Fr Ophtalmol 22:799PubMedGoogle Scholar
  4. 4.
    Dourmishev AL, Dourmishev LA, Schwartz RA, Janniger CK (1999) Waardenburg syndrome. Int J Dermatol 38:656–63CrossRefPubMedGoogle Scholar
  5. 5.
    Shah KN, Dalal SJ, Desai MP, et al (1981) White forelock, pigmentary disorder of irides, and long segment Hirschsprung disease: possible variant of Waardenburg syndrome. J Pediatr 99:432–5CrossRefPubMedGoogle Scholar
  6. 6.
    Nayak CS, Isaacson G (2003) Worldwide distribution of Waardenburg syndrome. Ann Otol Rhinol Laryngol 112: 817–20CrossRefPubMedGoogle Scholar
  7. 7.
    Ebner J, Kahn T, Schafer I (2007) Type 1 Waardenburg syndrome in 3 family members. J Am Acad Dermatol 65:AB111Google Scholar
  8. 8.
    Mehta M, Kavadu P, Chougule S (2004) Waardenburg syndrome. Indian J Otolaryngol Head Neck Surg 56:4Google Scholar
  9. 9.
    Bansal Y, Jain P, Goyal G (2013) Waardenburg syndrome: a case report. Cont Lens Anterior Eye 36:49–51CrossRefPubMedGoogle Scholar
  10. 10.
    Vichare N, Bhargava N (2013) Waardenburg syndrome: a rare case with bilateral congenital cataract: an unusual entity. Med J Armed Forces India 69:172–4CrossRefPubMedGoogle Scholar
  11. 11.
    Sheffer R, Zlotogora J (1992) Autosomal dominant inheritance of Klein-Waardenburg syndrome. Am J Med Genet 42:320–2CrossRefPubMedGoogle Scholar
  12. 12.
    Dourmishev AL, Dourmishev LA (1998) Klein-Waardenburg syndrome with facial palsy and lingua plicata. J Eur Acad Dermatol Venereol 11:164–5CrossRefGoogle Scholar
  13. 13.
    Tekin M, Bodurtha JN, Nance WE, Pandya A (2001) Waardenburg syndrome type 3 (Klein-Waardenburg syndrome) segregating with a heterozygous deletion in the paired box domain of PAX3: a simple variant or a true syndrome? Clin Genet 60:301–4CrossRefPubMedGoogle Scholar
  14. 14.
    Wollnik B, Tukel T, Uyguner O, et al (2003) Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome. Am J Med Genet Part A 122: 42–5CrossRefGoogle Scholar
  15. 15.
    Pérez LM, Ramos FH, Martínez EP (2003) Klein-Waardenburg syndrome: presentation of a family. Rev Cienc Med Habana 9:36–41Google Scholar
  16. 16.
    Ghosh SK, Bandyopadhyay D, Ghosh A, et al (2010) Waardenburg syndrome: a report of three cases. Indian J Dermatol Venereol Leprol 76:550–2CrossRefPubMedGoogle Scholar
  17. 17.
    Mahmoudi A, Rami M, Khattala K, et al (2013) Shah- Waardenburg syndrome. Pan Afr Med J 14:60PubMedPubMedCentralGoogle Scholar
  18. 18.
    Benbakh M (2014) Syndrome deWaardenburg: exemple de surdité congénitale. Research Fr. http://dx.doi.org/10.13070/rs.fr.1.963Google Scholar
  19. 19.
    Doubaj Y, Pingault V, Elalaoui SC, et al (2015) A novel mutation in the endothelin B receptor gene in a Moroccan family with Shah-Waardenburg syndrome. Mol Syndromol 6:44–9PubMedPubMedCentralGoogle Scholar
  20. 20.
    Mathieu M, Bourges E, Caron F, Piussan C (1990) Waardenburg’s syndrome and severe cyanotic cardiopathy. Arch Fr Pediatr 47:657–9PubMedGoogle Scholar
  21. 21.
    De Sousa-Andrade SM, Monteiro AR, Martins JH, et al (2012) Cochlear implant rehabilitation outcomes in Waardenburg syndrome children. Int J Pediatr Otorhinolaryngol 76:1375–8CrossRefPubMedGoogle Scholar

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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