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A Case of De Novo 18p Deletion Syndrome with SensorineuralHearing Loss: A case report

Other Title
감각신경성 청각장애를 동반한 18번 염색체 단완 결손 증후군 1례 - 증례 보고 -
Authors
김, 승환; 임, 신영; 홍, 지연
Citation
Taehan Chaehwal Ŭihakhoe chi, 32(5):591-594, 2008
Journal Title
Taehan Chaehwal Ŭihakhoe chi; The Journal of Korean Academy of Rehabilitation Medicine; 대한재활의학회지
ISSN
1225-584X
Abstract
Chromosome 18p deletion syndrome is one of the most frequent autosomal abnormalities with more than 150 reported cases in the world and 7 reported cases in South Korea. Frequent clinical features of 18p deletion syndrome include intellectual disability, growth retardation, and dysmorphic features including ptosis. To the best of our knowledge, sensorineural hearing loss has not been reported in the 18p deletion syndrome until now. A case with sensorineural hearing impairment associated with hypoplasia of bilateral cochlear nerves is presented in this paper. The sensorineural hearing impairment seen in this case could be related with deleted gene(s) located in the short arm of chromosome 18 or be an independent feature unrelated with 18p deletion. Further case reports are required in order to better define the relation between sensorineural hearing loss and the 18p deletion syndrome.
Keywords
Chromosome 18DeletionSensorineural hearing loss
Appears in Collections:
Journal Papers > School of Medicine / Graduate School of Medicine > Physical Medicine & Rehabilitation
AJOU Authors
임, 신영
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