Marden‐Walker syndrome: case report, literature review and nosologic discussion

Schrander‐Stumpel C, de Die‐Smulders C, de Krom M, Schyns‐Fleuren S, Hamel B, Jaeken D, Fryns J‐P. Marden‐Walker syndrome: case report, literature review and nosologic discussion. Clin Genet 1993: 43: 303–308. © Munksgaard, 1993 The Marden‐Walker syndrome is characterized by psychomotor retardation, a mask‐like face with blepharophimosis, micrognathia and a high‐arched or cleft palate, low‐set ears, kyphoscoliosis and joint contractures. We report on a male patient with the clinical features of the syndrome. In addition, he had a Dandy‐Walker malformation with hydrocephalus and vertebral abnormalities. During pregnancy, there were feeble fetal movements and polyhydramnios. We propose that Marden‐Walker syndrome is one of the etiologic possibilities in children with the heterogeneous fetal a(hypo)kinesia deformation sequence (FADS). Differential diagnosis is discussed. The etiology is probably heterogeneous.