Annals of Rehabilitation Medicine

Case Report: J Korean Acad Rehabil Med. 2008;32(5):591-594.; A Case of De Novo 18p Deletion Syndrome with SensorineuralHearing Loss: A case report.; 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

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)

Keywords :Chromosome 18, Deletion, Sensorineural hearing loss