prenatal diagnosis of Stüve-Wiedemann Syndrome in a woman wi
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Stüve-Wiedemann Syndrome (SWS) is an autosomal-recessive syndrome characterized by myotonia with mask-like face, skeletal dysplasia and intrauterine growth restriction. Other clinical findings are pursed mouth, hypoplastic midface, congenital contractures and muscular hypotonia. We discuss about the importance of prenatal diagnosis in SWS and the possibility of survival after the first year of life in patients suffering from this disease.....

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3808941/
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