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.

journal_name

Clin Genet

journal_title

Clinical genetics

authors

Schrander-Stumpel C,de Die-Smulders C,de Krom M,Schyns-Fleuran S,Hamel B,Jaeken D,Fryns JP

doi

10.1111/j.1399-0004.1993.tb03823.x

subject

Has Abstract

pub_date

1993-06-01 00:00:00

pages

303-8

issue

6

eissn

0009-9163

issn

1399-0004

journal_volume

43

pub_type

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