Marden-Walker phenotype: spectrum of variability in three infants

Am J Med Genet. 1993 Feb 1;45(3):285-91. doi: 10.1002/ajmg.1320450302.

Abstract

The physical, radiographic, and pathologic findings in 3 new patients with Marden-Walker syndrome (MWS) are compared with those of previously described children with the syndrome. Over 75% of the children with MWS have blepharophimosis, psychomotor retardation, small mouth, micrognathia, kyphosis/scoliosis, and multiple contractures. Minimal diagnostic criteria have yet to be defined attesting to the broad range of variability and potential genetic heterogeneity in this disorder.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Blepharophimosis / genetics*
  • Child, Preschool
  • Contracture / genetics
  • Developmental Disabilities / genetics
  • Face / abnormalities
  • Humans
  • Infant
  • Male
  • Micrognathism / genetics
  • Phenotype
  • Syndrome