Marden-Walker syndrome: case report, literature review and nosologic discussion

Clin Genet. 1993 Jun;43(6):303-8. doi: 10.1111/j.1399-0004.1993.tb03823.x.


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.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Dandy-Walker Syndrome / genetics
  • Growth Disorders / genetics
  • Humans
  • Infant, Newborn
  • Male
  • Psychomotor Performance
  • Syndrome