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A case of Marden‐Walker syndrome with Dandy‐Walker malformation
Author(s) -
Özkinay F.,
Özyürek A. R.,
Bakiler A. R.,
Narin N.,
Yüksel H.,
Özkinay C.,
Parlar A.,
Arcasoy M.
Publication year - 1995
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1995.tb03964.x
Subject(s) - dandy–walker syndrome , anatomy , medicine , surgery , hydrocephalus
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.