Matasariu Daniela Roxana, Bujor Iuliana-Elena, Gireada Roxana Maria, Guzga Luiza Maria, Nedelea Florina Mihaela, Titianu Monica, Ursache Alexandra
Department of Mother and Child, University of Medicine and Pharmacy 'Gr. T. Popa', 700115 Iasi, Romania.
Department of Obstetrics and Gynecology, Cuza Voda Hospital, 700038 Iasi, Romania.
Int J Mol Sci. 2025 May 27;26(11):5142. doi: 10.3390/ijms26115142.
Rubinstein-Taybi syndrome (RSTS) is a rare genetic disorder characterized by distinctive craniofacial, limb, and developmental abnormalities, often identified postnatally. Prenatal diagnosis remains challenging due to a scarcity of ultrasound diagnostic markers and a wide range of phenotypic manifestations. We describe the case of a 28-year-old pregnant patient who presented to our center after fetal abnormalities such as aberrant cranial morphology, a shorter femur, and rocker-bottom feet were detected. A comprehensive ultrasound examination at 26 weeks revealed skeletal and craniofacial characteristics suggestive of RSTS, which prompted genetic counseling and molecular karyotyping. Single-nucleotide polymorphism (SNP) array analysis confirmed a loss on chromosome 16p13.3, including the () gene, confirming the suspicion. This case emphasizes the importance of genetic testing and sophisticated prenatal imaging in enabling an early and precise diagnosis of RSTS, offering important information on its prenatal phenotype and supporting family counseling. Extensive research becomes vital in establishing precise ultrasound markers for the early detection of RSTS during pregnancy.
鲁宾斯坦-泰比综合征（RSTS）是一种罕见的遗传性疾病，其特征为独特的颅面、肢体和发育异常，通常在出生后才得以确诊。由于缺乏超声诊断标志物以及广泛的表型表现，产前诊断仍然具有挑战性。我们描述了一名28岁孕妇的病例，该孕妇在检测到胎儿出现如颅骨形态异常、股骨较短和摇椅底足等异常情况后前来我们中心就诊。孕26周时进行的全面超声检查显示出提示RSTS的骨骼和颅面特征，这促使进行了遗传咨询和分子核型分析。单核苷酸多态性（SNP）阵列分析证实16p13.3染色体存在缺失，包括（）基因，从而证实了怀疑。该病例强调了基因检测和精密产前成像对于早期准确诊断RSTS的重要性，提供了有关其产前表型的重要信息，并支持家庭咨询。广泛的研究对于建立在孕期早期检测RSTS的精确超声标志物至关重要。
