A case of Marden-Walker syndrome with Dandy-Walker malformation

A 5-month-old girl with Marden-Walker syndrome is presented. This is a rare autosomal recessive syndrome. So far, approximately 20 cases have been described in the literature. The patient was hospitalized because of difficulty in feeding and slow spontaneous movements. Her parents were first cousins...

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Bibliographic Details
Published inClinical genetics Vol. 47; no. 4; p. 221
Main Authors Ozkinay, F, Ozyürek, A R, Bakiler, A R, Narin, N, Yüksel, H, Ozkinay, C, Parlar, A, Arcasoy, M
Format Journal Article
LanguageEnglish
Published Denmark 01.04.1995
Subjects
Brain - abnormalities
Dandy-Walker Syndrome - pathology
Developmental Disabilities - etiology
Developmental Disabilities - genetics
Face - abnormalities
Female
Humans
Infant
Magnetic Resonance Imaging
Musculoskeletal Abnormalities
Syndrome
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Summary:A 5-month-old girl with Marden-Walker syndrome is presented. This is a rare autosomal recessive syndrome. So far, approximately 20 cases have been described in the literature. The patient was hospitalized because of difficulty in feeding and slow spontaneous movements. Her parents were first cousins. She was diagnosed with clinical findings of growth and motor retardation, typical facial appearance, congenital heart disease, arachnodactyly, joint contractures, and a Dandy-Walker malformation on magnetic resonance imaging.
ISSN:0009-9163
DOI:10.1111/j.1399-0004.1995.tb03964.x