Marden-Walker syndrome: case report, literature review and nosologic discussion
- 23 April 2008
- journal article
- case report
- Published by Wiley in Clinical Genetics
- Vol. 43 (6) , 303-308
- https://doi.org/10.1111/j.1399-0004.1993.tb03823.x
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.Keywords
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