Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
Department of Obstetrics and Gynecology, Division of Perinatology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
Eur J Med Genet. 2023 Mar;66(3):104712. doi: 10.1016/j.ejmg.2023.104712. Epub 2023 Jan 28.
Fraser syndrome (FS) is a rare multiple malformation disorder characterized by cryptophthalmos, characteristic craniofacial dysmorphism, cutaneous syndactyly, malformations of the respiratory and urinary tract, and anogenital anomalies. Although the characteristic presentation of FS can be detected prenatally, oligohydramnios often challenges the clinical diagnosis. Here we report on the atypical prenatal and postmortem findings of a fetus with FS caused by a novel homozygous frameshift variant in FREM2. Our study highlights the variable manifestations of the FS and expands the clinical spectrum to include popliteal pterygium and structural central nervous system anomalies.
弗雷泽综合征（FS）是一种罕见的多发性畸形疾病，其特征为隐眼、特征性颅面畸形、皮肤并指畸形、呼吸道和泌尿道畸形以及肛门生殖器异常。尽管 FS 的典型表现可以在产前检测到，但羊水过少常常使临床诊断面临挑战。在此，我们报告了一例由 FREM2 中的新型纯合移码变异引起的 FS 胎儿的非典型产前和死后发现。我们的研究强调了 FS 的多变表现，并将临床谱扩展到包括腘窝翼状胬肉和结构性中枢神经系统异常。
