WAARDENBURG SYNDROME TYPE2 IN A 10 MONTH OLD INFANT; A CASE REPORT

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BEHZADNIA S.

مرکز اطلاعات علمی Scientific Information Database (SID) - Trusted Source for Research and Academic Resources

Journal Paper

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Journal: Journal of Mazandaran University of Medical Sciences Year:2009 | Volume:19 | Issue:72 Page(s): 77-80

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Title

WAARDENBURG SYNDROME TYPE2 IN A 10 MONTH OLD INFANT; A CASE REPORT

Author(s)

BEHZADNIA S. | Issue Writer Certificate

Keywords

WAARDENBURG SYNDROMEQ3

HEARING LOSSQ3

HETEROCHROMIAQ3

Abstract

Background and purpose: WAARDENBURG SYNDROME (WS) is a rare disease characterized by sensor neural deafness in association with pigmentary anomalies and defects of neural-crest-derived tissues. WS is caused by mutations in the microphthalmia-associated with transcription factor gene.Materials and methods: This case is a 10 month old infant girl in which during a routine physical examination found that she has hetetrochromia and unilateral HEARING LOSS. Regard to WAARDENBURG SYNDROME criteria Type 2, this case report was diagnosed as WS.Results: WS is classified into four types. WS 2 is characterized by sensorineural HEARING LOSS, lateral displacement of medial canthi (dystopia canthorum), pigmentary disorders of eyes, hair, and skin.Conclusion: WAARDENBURG SYNDROME can be diagnosed easily in the first few months of life, due to prominent phenotypic features. Earlier diagnosis means a more successful rehabilitation of hearing.

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APA: Copy

BEHZADNIA, S.. (2009). WAARDENBURG SYNDROME TYPE2 IN A 10 MONTH OLD INFANT; A CASE REPORT. JOURNAL OF MAZANDARAN UNIVERSITY OF MEDICAL SCIENCES, 19(72), 77-80. SID. https://sid.ir/paper/46140/en

Vancouver: Copy

BEHZADNIA S.. WAARDENBURG SYNDROME TYPE2 IN A 10 MONTH OLD INFANT; A CASE REPORT. JOURNAL OF MAZANDARAN UNIVERSITY OF MEDICAL SCIENCES[Internet]. 2009;19(72):77-80. Available from: https://sid.ir/paper/46140/en

IEEE: Copy

S. BEHZADNIA, “WAARDENBURG SYNDROME TYPE2 IN A 10 MONTH OLD INFANT; A CASE REPORT,” JOURNAL OF MAZANDARAN UNIVERSITY OF MEDICAL SCIENCES, vol. 19, no. 72, pp. 77–80, 2009, [Online]. Available: https://sid.ir/paper/46140/en

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