Stiller R J, Lieberson D, Herzlinger R, Siddiqui D, Laifer S A, Whetham J C
Department of Obstetrics and Gynecology, Bridgeport Hospital, CT 06610, USA.
Prenat Diagn. 1999 Jun;19(6):587-9.
We report a fetus with spinal muscular atrophy type I, who presented with an increased nuchal translucency at 13 weeks' gestation. A review of the literature reveals additional cases of spinal muscular atrophy type I associated with increased nuchal translucency and suggests increased nuchal translucency may be an early finding in this disorder.
我们报告了一名患有I型脊髓性肌萎缩症的胎儿，该胎儿在妊娠13周时出现颈部半透明带增厚。文献回顾显示了其他一些I型脊髓性肌萎缩症与颈部半透明带增厚相关的病例，并提示颈部半透明带增厚可能是该疾病的早期表现。
