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Marden-Walker syndrome: case report, literature review and nosologic discussion |
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| Authors: | Constance Schrander-Stumpel Christine de Die-Smulders Marc de Krom Suzanne Schyns-Fleuren Ben Hamel Deni Jaeken Jean-Pierre Fryns |
| Affiliation: | Departments of Clinical Genetics, The Netherlands;Neurology, Maastricht University Hospital, The Netherlands;Institute for Mentally Handicapped People "On de Bies", Landgraaf, The Netherlands;Department of Human Genetics, Nijmegen University Hospital, The Netherlands;Child Rehabation Centre Franciscusoord, Valkenburg, The Netherlands;Department of Human Genetics, University Hospital Gasthuisberg, Leuven, Belgium |
| Abstract: | 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. |
| Keywords: | blepharophimosis Dandy-Walker malformation fetal a(hypo)kinesia Marden-Walker syndrome |