Catavorello Anita, Vitale Salvatore Giovanni, Rossetti Diego, Caldaci Lisa, Panella Marco Marzio
Department of Medical Surgical Specialties, University of Catania, Catania, Italy.
J Prenat Med. 2013 Jul;7(3):35-8.
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.
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 38(th) week of gestation. Then diagnosis was genetically performed.
at birth, clinical examination was concordant with the ultrasound findings. Genetic analysis also confirmed the presumptive diagnosis. Episodes of respiratory distress and hyperthermia decreased until it disappeared altogether at 1 year of age.
we underline the usefulness of ultrasound study of fetal skeleton in the prenatal diagnosis. It allowed us to do an early detection of birth defects and their appropriate management.
施图韦-维德曼综合征（SWS；MIM 601559）是一种常染色体隐性综合征，其特征为肌强直伴面具样面容、骨骼发育异常和宫内生长受限。其他临床症状包括撅嘴、面中部发育不全、先天性挛缩和肌张力减退。我们讨论了SWS产前诊断的重要性以及该疾病患者一岁后存活的可能性。
我们报告了在我们的手术科室通过形态学检查发现的一例施图韦-维德曼综合征病例。在妊娠中期，使用二维和三维探头进行了产前初步诊断。妊娠38周时进行了剖宫产。随后进行了基因诊断。
出生时，临床检查与超声检查结果一致。基因分析也证实了初步诊断。呼吸窘迫和体温过高发作次数减少，直至1岁时完全消失。
我们强调了胎儿骨骼超声检查在产前诊断中的有用性。它使我们能够早期发现出生缺陷并进行适当处理。
