Department of Obstetrics and Gynecology, Wenzhou People's Hospital, Wenzhou Maternal and Child Health Care Hospital, The Third Clinical Institute Affiliated To Wenzhou Medical University, Wenzhou, 325000, China.
Ital J Pediatr. 2019 Jul 18;45(1):85. doi: 10.1186/s13052-019-0680-4.
Turner syndrome (45,X), accounts for 1-2% of conceptions which typically miscarry early in the first trimester. Cases detected prenatally often present with cystic hygroma, which is an ultrasound marker for aneuploidy generally, but Turner syndrome particularly. In this study, we report a second trimester intrauterine fetal demise (IUFD), complicated by a marked cystic hygroma and bilateral syndactyly of the fingers and toes.
A 25-year-old woman presented for her first prenatal visit at 22-week gestation with IUFD. Color Doppler ultrasound revealed a septated nuchal lymphatic hygroma and hydrops fetalis, characterized by edema of the whole body, substantial pleural effusion and abdominal fluid. Pregnancy was further complicated by oligohydramnios. Following labor induction, a stillborn female baby was delivered at 22 weeks gestation. Autopsy confirmed the presence of huge nuchal cystic hygroma (10 cm × 10 cm × 6 cm) and generalized edema. Bilateral, partial syndactyly involving digits 2-5 of the fingers and toes were also observed. Chromosomal analysis revealed a 45,X karyotype.
We investigated an unusual case of severe septated nuchal cystic hygroma associated with bilateral syndactyly of the fingers and toes in a stillborn infant with Turner syndrome. Although cystic hygroma has been frequently reported in 45,X the severity is marked in this case. In addition, syndactyly is not a typical complication of Turner syndrome. This case emphasizes the importance of early ultrasound in pregnancy.
特纳综合征（45，X）占妊娠的 1-2%，通常在妊娠早期流产。产前检测到的病例常伴有囊状水瘤，这通常是染色体非整倍体的超声标志物，但特别是特纳综合征。在本研究中，我们报告了一例妊娠中期宫内胎儿死亡（IUFD），伴有明显的囊状水瘤和手指和脚趾的双侧并指。
一名 25 岁的女性在妊娠 22 周时因 IUFD 首次就诊。彩色多普勒超声显示分隔的颈淋巴水瘤和胎儿水肿，特征为全身水肿、大量胸腔积液和腹腔积液。妊娠进一步复杂化，羊水过少。引产后，22 周妊娠时娩出一死产女婴。尸检证实存在巨大的颈淋巴囊状水瘤（10cm×10cm×6cm）和全身水肿。还观察到双侧手指和脚趾的 2-5 个手指部分并指。染色体分析显示为 45，X 核型。
我们研究了一例特纳综合征伴严重分隔颈淋巴囊状水瘤和手指和脚趾双侧并指的不常见病例。虽然囊状水瘤在 45，X 中经常报道，但在本例中其严重程度显著。此外，并指不是特纳综合征的典型并发症。该病例强调了妊娠早期超声的重要性。
