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A Case of Dandy-Walker Syndrome with Chromosomal Abnormality

Journal of the Korean Pediatric Society 1994;37(12):1784-1788.
Published online December 15, 1994.
A Case of Dandy-Walker Syndrome with Chromosomal Abnormality
Hyui Sung Chang, Seok Kyu Lee, Gi Chung Lee, Woo Ki Lee, Kwang Woo Kim
Department of Pediatrics, Sunrin Hospital, Pohang, Korea
Chromosormal Abnormality를 동반한 Dandy-Walker Syndrome 1례
장혜성, 이석규, 이기창, 이우기, 김광우
포항선린병원 소아과
Abstract
The Dandy-Walker syndrome is a developmental disorders of the brain characterized by cystic defromity of the 4th ventricle and agensis of the cerebellar vermis. Other systemic anomalies and chromosomal abnormalities are associated with this syndrome. We are experienced a case in a 9 months old male infant who presented initially with frequent vomiting, low birth weight, On the physical examination, a prominent occiput, palpable mass below the right upper quadrant, pulmonary valve stenosis, congenital dislocation of the hips, ventral flexion of fingers, clubfoots and the rocker-bottom deformities of feet were present. On the chromosomal study, there were chromosomal polymorphisms in a thickened C-band of chromosome No. 1 by C-banding method. The brain CT revealed a large, thin-walled, low density mass of CSF without enhancement in the posterior fossa, showing upward displacement of cerebellar hemisphere with absent inferior vermis(or associated with dyslastic cerebellar hemisphere). A brief review of the related literatures were incluede in this report.
Key Words: Dandy-Walker syndrome, Chromosomal Polymorphysm, Hydrocephalus


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