Freeman-Sheldon syndrome
Journal Title: New Medicine - Year 2009, Vol 12, Issue 2
Abstract
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.
Authors and Affiliations
Justyna Paprocka, Ewa Jamroz, Antoni Pyrkosz, Elżbieta Marszał
Keywords
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