TY - JOUR
T1 - Marden-Walker phenotype
T2 - Spectrum of variability in three infants
AU - Ramer, J. C.
AU - Frankel, C. A.
AU - Ladda, R. L.
PY - 1993
Y1 - 1993
N2 - 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.
AB - 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.
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U2 - 10.1002/ajmg.1320450302
DO - 10.1002/ajmg.1320450302
M3 - Article
C2 - 7679543
AN - SCOPUS:0027476346
SN - 0148-7299
VL - 45
SP - 285
EP - 291
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
IS - 3
ER -