Marden-Walker syndrome: case report, literature review and nosologic discussion.
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.
Schrander-Stumpel
C
C
Department of Clinical Genetics, Maastricht University Hospital, The Netherlands.
de Die-Smulders
C
C
de Krom
M
M
Schyns-Fleuran
S
S
Hamel
B
B
Jaeken
D
D
Fryns
J P
JP
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