Marden-Walker phenotype: Spectrum of variability in three infants

J. C. Ramer, C. A. Frankel, R. L. Ladda

Research output: Contribution to journalArticlepeer-review

15 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)285-291
Number of pages7
JournalAmerican Journal of Medical Genetics
Volume45
Issue number3
DOIs
StatePublished - Feb 2 1993

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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