Dolan Siobhan M, Shanske Alan L, Marion Robert W, Gross Susan J
Division of Reproductive Genetics, Department of Obstetrics & Gynecology and Women's Health, Albert Einstein College of Medicine and Montefiore Medical Center, 1635 Poplar Street, 2nd Floor, Bronx, NY 10461, USA.
Prenat Diagn. 2003 Feb;23(2):138-42. doi: 10.1002/pd.560.
Initially described in 1972, Bartsocas-Papas syndrome (BPS) is an autosomal recessively inherited disorder combining multiple pterygia, ankyloblepharon, cleft lip and palate, filiform bands between the jaws, syndactyly, and other anomalies. Although described as lethal, review of the literature reveals three individuals who survived into childhood with this condition. We describe a fourth surviving patient and what we believe to be the first prenatal diagnosis of BPS in the first trimester.
巴尔索卡斯-帕帕斯综合征(BPS)于1972年首次被描述,是一种常染色体隐性遗传疾病,合并有多处翼状胬肉、睑缘粘连、唇腭裂、颌间丝状带、并指(趾)及其他畸形。尽管该疾病被描述为致死性的,但文献回顾发现有3例患者存活至儿童期。我们报告了第4例存活患者,并认为这是首例在孕早期进行的BPS产前诊断。