A CASE OF MARDEN-WALKER SYNDROME WITH DANDY-WALKER MALFORMATION

Citation
F. Ozkinay et al., A CASE OF MARDEN-WALKER SYNDROME WITH DANDY-WALKER MALFORMATION, Clinical genetics, 47(4), 1995, pp. 221-223
Citations number
9
Categorie Soggetti
Genetics & Heredity
Journal title
ISSN journal
00099163
Volume
47
Issue
4
Year of publication
1995
Pages
221 - 223
Database
ISI
SICI code
0009-9163(1995)47:4<221:ACOMSW>2.0.ZU;2-F
Abstract
A 5-month-old girl with Marden-Walker syndrome is presented. This is a rare autosomal recessive syndrome. So far, approximately 20 cases hav e been described in the literature. The patient was hospitalized becau se of difficulty in feeding and slow spontaneous movements. Her parent s were first cousins. She was diagnosed with clinical findings of grow th and motor retardation, typical facial appearance, congenital heart disease, arachnodactyly, joint contractures, and a Dandy-Walker malfor mation on magnetic resonance imaging.