Freeman-Sheldon syndrome

*Justyna Paprocka¹, Ewa Jamroz¹, Antoni Pyrkosz², Elżbieta Marszał¹

Summary
Freeman-Sheldon is a rare and underdiagnosed distal arthrogryposis syndrome. It is the most severe form and despite the striking contractures of the orofacial muscles (resulting in down-slanting palpebral fissures, prominent nasolabial folds, H-shaped dimpling of the chin, pinched lips) may be misdiagnosed as a Sheldon-Hall syndrome. The authors describe a 14-month-old boy with the phenotype of Freeman-Sheldon syndrome. Despite typical presentation, however, many physicians remain unfamiliar with the condition. Its diagnosis has important implications for both medical management and counselling.

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