Marden-Walker syndrome: Case report, nosologic discussion and aspects of counseling

Marden-Walker syndrome: Case report, nosologic discussion and aspects of co unseling: The Marden-Walker syndrome is characterized by a mask-like face w ith blepharophimosis, micrognathia, cleft or high-arched palate, low-set ea rs, congenital joint contractures, decreased muscular mass, failure to thri ve and psychomotor retardation, we report a boy with a phenotype mostly res embling the condition named Marden-Walker syndrome, with many of the criter ia proposed for diagnosing this particular phenotype. In addition he had hy poplastic corpus callosum, cerebellar vermis hypoplasia, enlarged cisterna magna and vertebral abnormalities. During pregnancy there were reduced feta l movements. In the present patient the fetal hypokinesia sequence, due to central nervous system malformation, is most compatible with the diagnosis of Marden-Walker syndrome. The etiology is probably heterogeneous, but the possibility of autosomal recessive Inheritance should be considered in gene tic counseling.