Marden-Walker phenotype: a diagnostic dilemma

Two cases are presented with a phenotype mostly resembling the condition named Marden-Walker syndrome. Main features of this condition are blepharophimosis, micrognatia, congenital joint contractures, mental retardation, growth retardation and decreased muscular mass. Follow-up data of patients with this condition are scarce and most patients reported so far were infants or young children. We report two patients meeting many of the criteria proposed for diagnosing this particular phenotype. One case was diagnosed in adolescence and the other as an adult. Initially described as a syndrome, this condition is more likely to be a phenotypic expression of various heterogeneous diseases.