Marden-Walker syndrome: Case report, nosologic discussion and aspects of counseling

L. Garavelli, A. Donadio, G. Banchini, C. Magnani, C. Magnani, E. Calzolari, J. P. Fryns

Research output: Contribution to journalArticlepeer-review

Abstract

The Marden-Walker syndrome is characterized by a mask-like face with blepharophimosis, micrognathia, cleft or high-arched palate, low-set ears, congenital joint contractures, decreased muscular mass, failure to thrive and psychomotor retardation. We report a boy with a phenotype mostly resembling the condition named Marden-Walker syndrome, with many of the criteria proposed for diagnosing this particular phenotype. In addition he had hypoplastic corpus callosum, cerebellar vermis hypoplasia, enlarged cisterna magna and vertebral abnormalities. During pregnancy there were reduced fetal movements. In the present patient the fetal hypokinesia sequence, due to central nervous system malformation, is most compatible with the diagnosis of Marden-Walker syndrome. The etiology is probably heterogeneous, but the possibility of autosomal recessive inheritance should be considered in genetic counseling.

Original languageEnglish
Pages (from-to)111-118
Number of pages8
JournalGenetic Counseling
Volume11
Issue number2
Publication statusPublished - 2000

Keywords

  • Blepharophimosis
  • Distal arthrogryposis
  • Fetal a(hypo)kinesia sequence
  • Marden-Walker syndrome

ASJC Scopus subject areas

  • Genetics(clinical)

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