Waardenburg Syndrome Type 2: A Report of Three Cases in South-west Nigeria

  • Anthony O. Betiku Ben Carson School of Medicine, Babcock University, Ogun State http://orcid.org/0000-0002-2126-1205
  • Moses A. Akinola
  • Omodele O. Jagun
  • Olukayode Y. Oluyemi
  • Omotayo F. Salami
Keywords: Auditory Steady State Response Audiometry, Blue irides, Nigeria, Sensorineural hearing loss, Waardenburg syndrome Type 2

Abstract

 

This report is about ocular and audiometric findings in three children with Waardenburg syndrome Type 2 attending Special Education Centres in Nigeria.

Two female children and a male child aged 10, 13 and 5 years respectively had ocular examination and audiometric evaluation using inter-acoustics eclipse ASSR (Serial number 0933518) for auditory steady-state response audiometry (ASSR). The ocular features included bilateral hypoplastic blue irides and bilateral hypopigmented fundi while ASSR showed severe to profound sensorineural hearing loss. The three children had mutism hence they used sign languages for communication.

There is a need for early detection of this condition, health education and planned rehabilitation.

References

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

2. Tamayo M, Galvez N, Rodriguez M, Florez S, Varon C, Medina D, et al. Screening Program for Waardenburg syndrome in Colombia: Clinical definition and phenotypic variability. Am J Med Genet 2008; 146A: 1026-31.

3. Read AP, Newton VE. Waardenburg syndrome. J Med Genet 1997; 34: 656-65.

4. Gene Reviews. Milunsky JM. Waardenburg syndrome Type 1. Available at http://www.ncbi.nlm.nih.gov/books/NBK1531/. Posted July 20, 2001 (Updated December 29, 2011) and accessed on November 10, 2017.

5. Mehta M, Kavadu P, Chougule S. Waardenburg syndrome. Indian J Otolaryngol Head Neck Surg 2004; 56(4): 300-2.

6. Ahmed AO, Samaila E, Abah ER, Oladigbolu KK, Merali H, Abubakar A. Audiometric findings in Waardenburg syndrome amongst the institutionalised deaf/blind in Kaduna –Nigeria. Niger J Med 2011; 20: 28-32.

7. Morell R, Carey M.L, Lalwani AK, Friedman TB, Asher JH Jr. Three mutations in the paired homeodomain of PAX3 that cause Waardenburg syndrome Type 1. Hum Hered 1997; 47: 38-41.

8. Lautenschhlager NT, Milunsky A, Destefano A, Farrer L, Baldwin CT. A novel mutation in the MITF gene causes Waardenburg syndrome Type 2. Genet Anal 1996; 13: 43-4.

9. Tachibana M, Takeda K, Nobukuni Y, Urabe K, Long JE, Meyers KA, Aaronson SA, Miki T. Ectopic expression of MITF, a gene for Waardenburg syndrome Type 2, converts fibroblasts to cells with melanocytes characteristics. Nat Genet 1996; 14: 50-4.

10. Bist J, Adhikari P, Sharma AK. Waadenburg syndrome. Clin Exp Optom 2011; 94(2): 240-2.

11. Karaman A, Aliagaolu C. Waardenburg syndrome type 1. Dermatol online J 2006; 12: 21.

12. Arias S, Mota M. Apparent non-penetrance for dystopia in Waardenburg syndrome type 1 with some hints on the diagnosis of dystopia canthorum. J Genet Hum 1978; 26: 101-31.

13. Dourmishev AL, Dourmishev LA, Schwartz RA, Janniger CK. Waardenburg syndrome. Int J Dermatol 1999; 38: 656-63.

14. Goldberg MF. Waardenburg syndrome with fundus and other anomalies. Arch Ophthalmol 1966; 76; 797-810.

15. Garg U, Surana R. Waardenburg syndrome 2. Indian J Otol 2012; 18: 220-22.

16. Merchant SN, McKenna MJ, Milunsky A, Baldwin CT, Nadol JB. Otopathology in a Case of Type 1 Waardenburg Syndrome. Ann Otol Rhinol Laryngol 2001; 110: 875-82.

17. Newton V. Hearing loss and Waardenburg syndrome: Implications for genetic counselling. J Laryngol Otol 1990; 104: 97-103.

18. Lin YH, Ho HC, Wu HP. Comparison of auditory steady-state responses and auditory brainstem responses in audiometric assessment of adults with sensorineural hearing loss. Auris Nasus Larynx. 2009; 36: 140-5.

19. Osunwoke EA, Didia BC, Olotu EJ, Yerikema AH. A study of the normal values of inner canthal, outer canthal, interpupillary distance and head circumference of 3-21 years Ijaws. Am J Sci Ind Res 2012; 3(6): 441-5.
Published
2018-12-09
Section
Case Report