A case report of Turner syndrome associated with fetal nuchal cystic hygroma and bilateral syndactyly of the hands and feet

Ital J Pediatr. 2019 Jul 18;45(1):85. doi: 10.1186/s13052-019-0680-4.


Background: 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.

Case presentation: 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.

Conclusions: 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.

Keywords: Nuchal cystic hygroma; Syndactyly; Turner syndrome.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Female
  • Fetal Death
  • Humans
  • Hydrops Fetalis / diagnostic imaging*
  • Lymphangioma, Cystic / diagnostic imaging*
  • Oligohydramnios / diagnostic imaging
  • Pleural Effusion / diagnostic imaging
  • Pregnancy
  • Prenatal Diagnosis
  • Syndactyly / diagnostic imaging*
  • Turner Syndrome / diagnostic imaging*
  • Ultrasonography, Prenatal

Supplementary concepts

  • Nuchal bleb, familial