Marden-Walker phenotype: spectrum of variability in three infants.
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.
Ramer
J C
JC
Department of Pediatrics, Pennsylvania State University College of Medicine, Milton S. Hershey Medical Center, Hershey 17033.
Frankel
C A
CA
Ladda
R L
RL
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D016569:Blepharophimosis / Q000235:genetics*; D002675:Child, Preschool; D003286:Contracture / Q000235:genetics; D002658:Developmental Disabilities / Q000235:genetics; D005145:Face / Q000002:abnormalities; D006801:Humans; D007223:Infant; D008297:Male; D008844:Micrognathism / Q000235:genetics; D010641:Phenotype; D013577:Syndrome