J Korean Child Neurol Soc Search

CLOSE


Journal of the Korean Child Neurology Society 1999;7(1):119-123.
Published online October 30, 1999.
A Case of 9p Tetrasomy Associated with Hydrocephalus due to Hypertrophy of Choroid Plexus.
Chul Hong Kim, Eui Jun Yang, Sang Ook Nam, Su Yung Kim
Department of Pediatrics, College of Medicine, Pusan National University.
Abstract
9p Tetrasomy is rare chromosomal aberration that was described in approximately 30 previous patients in the world and this is the first described in Korea. Here we report a 3 month-old boy who was referred for genetic evaluation because of facial dysmorphism, such as wide fontanells, hypertelorism, bulbous nose, low set ears, cleft lip and palate. He had also psychomotor retardation and hypotonia. He was diagnosed as tetrasomy 9p syndrome by clinical feature and chromosomal study. Thereafter, increased growing of head size compared with body weight and height was observed and brain MRI shows hydrocephaly associated with remarkable hypertrophy of choroid plexus and mild Dandy Walker syndrome.
Key Words: 9p tetrasomy, Choroid plexus hyperplasia


ABOUT
ARTICLE CATEGORY

Browse all articles >

BROWSE ARTICLES
EDITORIAL POLICY
AUTHOR INFORMATION
Editorial Office
101, Daehak-ro, Jongno-gu, Seoul 03080, Korea
Tel: +82-2-2072-2364    Fax: +82-2-743-3455    E-mail: editor@annchildneurol.org                

Copyright © 2024 by Korean Child Neurology Society.

Developed in M2PI

Close layer
prev next