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

, Kim, Seung Hwan; , Hong, Ji Yoen; , Yim, Shin Young

Case Report

Journal of the Korean Academy of Rehabilitation Medicine 2008;32(5):591-594.

Kim, Seung Hwan , Hong, Ji Yoen , Yim, Shin Young

Department of Physical Medicine and Rehabilitation, Ajou University School of Medicine, Korea. syyim@ajou.ac.kr

감각신경성 청각장애를 동반한 18번 염색체 단완 결손 증후군 1례 -증례 보고-

김승환, 홍지연, 임신영

아주대학교 의과대학 재활의학교실

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. (J Korean Acad Rehab Med 2008; 32: 591-594)

Key Words: Chromosome 18, Deletion, Sensorineural hearing loss