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. 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.
Ozkinay
F
F
Ege University, Faculty of Medicine, Department of Pediatrics, Izmir, Turkey.
Ozyürek
A R
AR
Bakiler
A R
AR
Narin
N
N
Yüksel
H
H
Ozkinay
C
C
Parlar
A
A
Arcasoy
M
M
D001921:Brain / Q000002:abnormalities; D003616:Dandy-Walker Syndrome / Q000473:pathology*; D002658:Developmental Disabilities / Q000209:etiology* / Q000235:genetics; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D009139:Musculoskeletal Abnormalities; D013577:Syndrome