Daskalakis G, Souka A P, Kavalakis I, Haritos T, Basayiannis C, Antsaklis P, Antsaklis A
1st Department of Obstetrics and Gynaecology, Alexandra Maternity Hospital, University of Athens, Athens, Greece.
Fetal Diagn Ther. 2006;21(5):401-3. doi: 10.1159/000093879.
Short-rib-polydactyly syndrome represents a group of rare, autosomal recessive, lethal skeletal dysplasias characterized by hypoplastic thorax, short ribs, short limbs, polydactyly, and visceral abnormalities. We describe an affected fetus from a high-risk family presenting with increased nuchal translucency at 13 weeks of pregnancy. The diagnosis was established in the 2nd trimester.
短肋多指综合征是一组罕见的常染色体隐性致死性骨骼发育不良疾病，其特征为胸廓发育不全、肋骨短、四肢短小、多指畸形和内脏异常。我们描述了一名来自高危家庭的患病胎儿，在妊娠13周时出现颈项透明层增厚。在孕中期确诊。
