title: Marden-Walker syndrome: case report, literature review and nosologic discussion.
abstract: 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.
authors.affiliation: Department of Clinical Genetics, Maastricht University Hospital, The Netherlands.
authors.forename: C
authors.initials: C
authors.lastname: Schrander-Stumpel
authors.forename: C
authors.initials: C
authors.lastname: de Die-Smulders
authors.forename: M
authors.initials: M
authors.lastname: de Krom
authors.forename: S
authors.initials: S
authors.lastname: Schyns-Fleuran
authors.forename: B
authors.initials: B
authors.lastname: Hamel
authors.forename: D
authors.initials: D
authors.lastname: Jaeken
authors.forename: J P
authors.initials: JP
authors.lastname: Fryns
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D003616:Dandy-Walker Syndrome / Q000235:genetics; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011597:Psychomotor Performance; D013577:Syndrome