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Marden and Walker described in 1966 a female infant with blepharophimosis, joint contractures, arachnodactyly and growth and developmental delay, who died of pneumonia at 3 months. Since 1966, about 30 cases of Marden-Walker syndrome (MWS) have been reported. MWS signs are mostly present in the neonatal period and the most frequent manifestations include multiple congenital joint contractures, dysmorphic features with a mask-like face, blepharophimosis, ptosis, micrognathia, cleft or high-arched palate, low-set ears, arachnodactyly, decreased muscular mass. Disease course is always characterized by failure to thrive and psychomotor retardation. Initially described as a syndrome, this condition is more likely to be the phenotypic expression of various heterogeneous diseases and belongs to group II in the classification of arthrogryposis. The underlying pathological mechanism has not been clearly established. The diagnosis is only based on clinical criteria. The treatment is only symptomatic, with multidisciplinary management (kinesitherapy, psychomoticity, orthophony). |