A Case of De Novo 18p Deletion Syndrome with SensorineuralHearing Loss: A case report
감각신경성 청각장애를 동반한 18번 염색체 단완 결손 증후군 1례 - 증례 보고 -
김, 승환; 임, 신영; 홍, 지연
Taehan Chaehwal Ŭihakhoe chi, 32(5):591-594, 2008
Taehan Chaehwal Ŭihakhoe chi; The Journal of Korean Academy of Rehabilitation Medicine; 대한재활의학회지
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.
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.
Total Visit :2,788,652
Total Download :1,137,036
Today View :386
Ajou University Medical Information & Media Center 164 Worldcup-ro Yeongtong-gu Suwon 16499 Korea / TEL : 031-219-5312 / FAX : 031-219-5314 Copyright (c) Ajou University Medical Information & Media Center All Rights Reserved. AJOU Open Repository는 국립중앙도서관 OAK 보급사업으로 구축되었습니다.