Physical and functional evaluation in Marden-Walker syndrome: case report--review of literature.

Objective: To review literature concerning Marden-Walker syndrome (MWS) and describe physical-functional characteristics of a child with a suspected diagnosis of MWS.

Methods: Physical examination, laboratory and clinical tests were collected in a two-year-old boy. Bayley Scales of Infant and Toddler Development (BSITD-III) was applied to evaluate motor-cognitive development.

Results: Several facial features (blepharophimosis/micrognathia/cleft palate/pectus deformation/kyphoscoliosis), besides delayed physical growth, anemia, hypoplastic muscles, muscle atrophy and arachnodactyly were found; which are typically described in MWS. BSITD-III scaled scores were 1, 2 and 1, respectively, for gross-motor, fine-motor and cognitive skills; representing delays that were slightly more severe for gross-motor and cognitive skills compared with fine motor. We did not find joint contractures, which are strongly associated with MWS. Instead, we observed moderate muscle shortening.

Conclusions: The results found could be attributed to the early intervention applied to the child since eight months old; findings that highlight the importance of early intervention.