Arora Ena, Fuks Aleksandr, Meyer Jessica, Chervenak Judith
Department of Obstetrics and Gynecology, Icahn School of Medicine at Mount Sinai (NYC Health + Hospitals/Queens), 75-25,153rd street, kew garden hills, New York, NY 11367, USA.
Department of Obstetrics and Gynecology, New York University Langone Health, New York, NY, USA.
Radiol Case Rep. 2022 Nov 14;18(1):326-330. doi: 10.1016/j.radcr.2022.10.040. eCollection 2023 Jan.
The Bardet-Biedl Syndrome (BBS), also called Laurence-Moon-Bardet-Biedl syndrome is a rare ciliopathic autosomal recessive genetic defect. BBS phenotype develops over the years and diagnosis is usually made in late childhood or early adulthood. Prenatal diagnosis is rare in absence of family history or consanguinity. The major features of this syndrome are cone-rod dystrophy, obesity, polydactyly, learning disabilities, hypogonadism in males, renal anomalies, nystagmus, speech disorders, developmental delay and ataxia. At least 20 BBS genes have been identified and all are involved in primary cilia functioning. Genetic diagnosis includes multigene sequencing technologies. Clinical management includes symptomatic treatment. In our case report, we present a case of a baby born to parents of Bengali Asian ancestry with high clinical suspicion of BBS based on fetal magnetic resonance imaging findings done during antepartum surveillance.
巴德-比德尔综合征（BBS），也称为劳伦斯-穆恩-巴德-比德尔综合征，是一种罕见的常染色体隐性遗传性纤毛病。BBS表型会随着时间发展，诊断通常在儿童晚期或成年早期做出。在没有家族病史或近亲结婚的情况下，产前诊断很少见。该综合征的主要特征包括锥杆营养不良、肥胖、多指（趾）畸形、学习障碍、男性性腺功能减退、肾脏异常、眼球震颤、言语障碍、发育迟缓及共济失调。至少已鉴定出20个BBS基因，所有这些基因都参与初级纤毛的功能。基因诊断包括多基因测序技术。临床管理包括对症治疗。在我们的病例报告中，我们呈现了一例父母为孟加拉亚裔血统的婴儿，基于产前监测期间进行的胎儿磁共振成像结果，高度怀疑其患有BBS。
