Type III Waardenberg Syndrome : a case report

Authors

  • Kuldip Garg Professor & Head;Govt Medical College, Rajindra Hospital, Patiala.
  • M. R Kamakshi Junior Resident, Department of Surgery, Govt Medical College, Rajindra Hospital, Patiala

Keywords:

Genetic Disease, Autosomal Dominant, Sensorineural Hearing Loss, Hypoplastic Blue Eyes, Mental Disabilities

Abstract

Waardenberg syndrome is an autosomal dominant genetic disease which frequently manifests as sensorineural hearing loss, heterochromic iris, premature greying of hair. This is a case report of rare Type III waardenberg syndrome of a patient who presented to plastic surgery department of Rajindra Hospital, Patiala

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References

Waardenburg PJ. A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness. Am J Hum Genet. 1951; 3: 195-253.

Nayak CS, Isaacson G. Worldwide distribution of Waardenburg syndrome. Ann Otol RhinolLaryngol. 2003 Sep;112(9 Pt 1):817-20. Review

Liu XZ, Newton VE, Read AP. Waardenburg syndrome type II: phenotypic findings and diagnostic criteria. Am J Med Genet. 1995; 55: 95-100.

Granato L, Pinto CF, Ribeiro MQ. Perda auditiva de origem genética. In: Lopes Filho OC, editors. Tratado de fonoaudiologia. 2. ed. São Paulo: Roca. 2000; 25-40.

Pingault V, Ente D, Dastot-Le Moal F, Goossens M, Marlin S, Bondurand N. Review and update of mutations causing Waardenburg syndrome. Hum Mutat. 2010; 31: 391-406.

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Published

30-06-2019

How to Cite

Kuldip Garg, & M. R Kamakshi. (2019). Type III Waardenberg Syndrome : a case report. GMC Patiala Journal of Research and Medical Education, 2(1), 56–57. Retrieved from https://jrme.gmcpatiala.edu.in/index.php/j/article/view/43

Issue

Section

Case Report