J Korean Pediatr Soc.  1994 Dec;37(12):1784-1788.

A Case of Dandy-Walker Syndrome with Chromosomal Abnormality

• Chang HS
• Lee SK
• Lee GC
• Lee WK
• Kim KW

Abstract

The Dandy-Walker syndrome is a developmental disorders of the brain characterized by cystic deformity 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 dysplastic cerebellar hemisphere). A brief review of the related literatures were included in this report.

MeSH Terms

Brain
Chromosome Aberrations*
Clubfoot
Congenital Abnormalities
Dandy-Walker Syndrome*
Dislocations
Fingers
Foot
Hip
Humans
Infant
Infant, Low Birth Weight
Infant, Newborn
Male
Physical Examination
Pulmonary Valve Stenosis
Vomiting