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.