Catavorello, Anita and Vitale, Salvatore Giovanni and Rossetti, Diego and Caldaci, Lisa and Panella, Marco Marzio (2013) Case report of prenatal diagnosis of Stüve-Wiedemann Syndrome in a woman with another child affected too. Journal of prenatal medicine, 7 (3). pp. 35-38. ISSN 1971-3290
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Abstract
Objective: Stüve-Wiedemann Syndrome (SWS; MIM 601 559) 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. Methods: we report a case of Stüve-Wiedemann Syndrome detected by morphological examination in our Operative Unit. Prenatal presumptive diagnosis was given with two-dimensional and 3-D probe, during the second trimester of pregnancy. Caesarean section was performed at 38th week of gestation. Then diagnosis was genetically performed. Results: at birth, clinical examination was concordant with the ultrasound findings. Genetic analy- sis also confirmed the presumptive diagnosis. Episodes of respiratory distress and hyperthermia decreased until it disappeared altogether at 1 year of age. Conclusion: we underline the usefulness of ultra-sound study of fetal skeleton in the prenatal diagnosis. It allowed us to do an early detection of birth defects and their appropriate management.
| Item Type: | Article |
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| Uncontrolled Keywords: | Key words: Stüve-Wiedemann Syndrome, prenatal diagnosis, management, outcome |
| Subjects: | 500 Scienze naturali e Matematica > 570 Scienze della vita; Biologia |
| Depositing User: | Marina Spanti |
| Date Deposited: | 25 Jan 2016 17:04 |
| Last Modified: | 25 Jan 2016 17:04 |
| URI: | http://eprints.bice.rm.cnr.it/id/eprint/10333 |
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