Pirino Alessio, Sotgiu Maria Alessandra, Cosmi Erich, Montella Andrea, Bandiera Pasquale
Department of Biomedical Sciences, University of Sassari, Sassari, Italy.
Department of Woman's and Child's Health, Maternal-Fetal Medicine Unit, University of Padua, Padua, Italy.
Radiol Case Rep. 2019 Jan 15;14(3):415-418. doi: 10.1016/j.radcr.2018.12.012. eCollection 2019 Mar.
Klippel-Feil syndrome is a congenital malformation characterized by the fusion of at least 2 cervical vertebrae. It may occur in association with other clinical syndromes and disorders. We describe a case of prenatal diagnosis of a Klippel-Feil syndrome with Dandy-Walker malformation, and spina bifida, proved by ultrasound examination. A postmortem x-ray and autopsy were performed in a female fetus of 16 + 6 weeks of gestation: several malformations have been discovered. To the best of our knowledge, no similar cases have been reported in the medical literature. This case report underscores the importance of a careful ultrasound screening during pregnancy for an adequate diagnostic and therapeutic management.
克-费综合征是一种先天性畸形，其特征为至少两节颈椎融合。它可能与其他临床综合征和病症同时出现。我们描述了一例经超声检查证实的患有丹迪-沃克畸形和脊柱裂的克-费综合征的产前诊断病例。对一名妊娠16 + 6周的女胎进行了死后X线检查和尸检：发现了几处畸形。据我们所知，医学文献中尚未报道过类似病例。本病例报告强调了孕期仔细超声筛查对于进行充分诊断和治疗管理的重要性。
