Multiple pterygium syndrome with marked pterygia of the fingers and MRI changes in the spine

Abstract EN

We report a two years old Egyptian girl, the first birth of consanguineous marriage with clinical findings consistent with the diagnosis of the autosomal recessive multiple pterygium syndrome (Escobar) (growth retardation, craniofacial dimorphisms, multiple pterygia, kyphoscoliosis, and multiple joint contractures especially affecting the lower limbs).

What characterize out patient were the extensive pterygia of the fingers which kept them permanently flexed, while they were very mild in the neck, axillary folds and knee joints.

Our patient suffered also from mental retardation although mentality is commonly reported to be normal in this syndrome.

MRI of the spine revealed widened spinal canal and engorged intraspinal vessels, which were not reported before.