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Egyptian Journal of Medical Human Genetics

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

RM Shawky, S Elsayed, N Gaboon

Abstract


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 dysmorphism, multiple pterygia, kyphoscoliosis, multiple joint contractures especially affecting the lower limbs). What characterizes out patient was 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.

Keywords: Multiple pterygium syndrome; Joint contractures; Kyphoscoliosis; Autosomal recessive




http://dx.doi.org/10.1016/j.ejmhg.2011.08.001
AJOL African Journals Online