Marden-Walker phenotype: Spectrum of variability in three infants
- 1 February 1993
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 45 (3) , 285-291
- https://doi.org/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.Keywords
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