We present a patient with blepharophimosis, joint contractures, immobile facies, decreased muscular bulk, postnatal growth retradation, developmental delay, micrognathia, cleft palate, camptodactyly, arachnodactyly, pectus, kyphoscoliosis, hypospadias, and absent deep tendon reflexes. These findings are consistent with Marden-Walker syndrome (MWS). Twenty-two additional cases in the literature are reviewed. Diagnosis criteria are proposed, and the spectrum of variability is discussed. Evidence for autosomal recessive inheritance is reviewed as is the differential diagnosis. Possible pathogenetic mechanisms are considered.
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