Dr.Jeena V J

Dr.Swetha Kumari. C, Dr.Y V Gowthami

Abstract

Study Design :A case report
Purpose: Early diagnosis ,genetic counselling,counsel for the progression of disease
31 year old female Nulligravida presented with abnormal uterine bleeding admitted for myomectomy with history of hearing disability and inability to speak since childhood ,on general physical examination
patient had hypertelorism, hypoplastic nasal aka, flexion deformity of distal interphalangeal joint, premature greying of hair,On anterior segment examination , right eye heterochromia, telecanthus was present ,on fundus examination showed choroidemia and on optical coherence tomography choroidal thickness was reduced
Result: Diagnosis of waardenberg syndrome is based on clinical features of hypopigmentation of hair ocular findings, Sensory neural hearing loss
Conclusion: Waardenburg syndrome is rare disease with wide spectrum of clinical features early diagnosis helpful in improving quality of life