Marden-Walker syndrome: case report and review

Abstract

Marden-Walker syndrome is a rare autosomal recessive condition characterized by pre- and post-natal growth deficiency, psychomotor retardation, fixed facial expression, blepharophimosis, cleft palate, arachnodactyly, congenital joint contractures, reduced muscular mass, hypotonia and brain abnormalities. As of 1999, at least 30 cases of Marden-Walker have been reported. Consistent clinical findings are shared by these patients but no pathognomonic neuromuscular pathology has been reported. We report a case with Marden-Walker syndrome who demonstrated the clinical findings described above plus a Dandy-Walker malformation and a tethered spinal cord. We compare his clinical and radiographic findings with those of previously reported children with this syndrome and discuss differential diagnosis. It is important to distinguish Marden-Walker syndrome from Van Den Ende-Gupta syndrome which also includes blepharophimosis, arachnodactyly, congenital joint contractures and autosomal recessive mode of inheritance, but lacks mental retardation, serious brain malformations, microcephaly, failure to thrive and severe joint limitation, which are always present in Marden-Walker syndrome.