TY - JOUR
T1 - Mengenali gangguan pendengaran pada sindrom Waardenburg
AU - Zizlavsky, Semiramis
AU - Putri, Safira Trifani
AU - Suwento, Ronny
PY - 2017
Y1 - 2017
N2 - Background: Waardenburg Syndrome (WS) is an autosomal-dominant disorder, characterized by sensorineural hearing loss and pigmentary abnormalities of the eyes, hair, and skin. Auditory-pigmentary syndromes are caused by physical absence of melanocytes from the skin, hair, eyes, and the stria vascularis of the cochlea. Purpose: To provide information regarding clinical manifestation of Waardenburg Syndrome for early detection and prompt treatment particularly for hearing impairments. Case: A 7-year-old boy with late detection of hearing impairment. Previously, his parents didn’t recognize that this condition was one manifestation of Waardenburg syndrome, so that this patient developed speech delay. Method: Searching for evidence produced 14 journals and only 2 journals were relevant. Result: Of the 2 relevant journals, there were 1 research article and 1 case report that explained several clinical manifestations of Waardenberg Syndrome. Conclusion: Early detection and management of hearing impairment as one of frequent clinical manifestation of Waardenberg Syndrome is significantly important since this condition could influence patient’s individual and social developments.
AB - Background: Waardenburg Syndrome (WS) is an autosomal-dominant disorder, characterized by sensorineural hearing loss and pigmentary abnormalities of the eyes, hair, and skin. Auditory-pigmentary syndromes are caused by physical absence of melanocytes from the skin, hair, eyes, and the stria vascularis of the cochlea. Purpose: To provide information regarding clinical manifestation of Waardenburg Syndrome for early detection and prompt treatment particularly for hearing impairments. Case: A 7-year-old boy with late detection of hearing impairment. Previously, his parents didn’t recognize that this condition was one manifestation of Waardenburg syndrome, so that this patient developed speech delay. Method: Searching for evidence produced 14 journals and only 2 journals were relevant. Result: Of the 2 relevant journals, there were 1 research article and 1 case report that explained several clinical manifestations of Waardenberg Syndrome. Conclusion: Early detection and management of hearing impairment as one of frequent clinical manifestation of Waardenberg Syndrome is significantly important since this condition could influence patient’s individual and social developments.
UR - http://orli.or.id/index.php/orli/article/view/226
U2 - 10.32637/orli.v47i2
DO - 10.32637/orli.v47i2
M3 - Article
VL - 47
SP - 171
EP - 178
JO - Oto Rhino Laryngologica Indonesiana
JF - Oto Rhino Laryngologica Indonesiana
SN - 2598-3970
IS - 2
ER -