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.