First-trimester diagnosis of Bartsocas-Papas syndrome (BPS) by transvaginal ultrasound: case report and review of the literature.
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.
Dolan
Siobhan M
SM
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. siobhanmdolan@yahoo.com
Shanske
Alan L
AL
Marion
Robert W
RW
Gross
Susan J
SJ
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging* / Q000235:genetics / Q000601:surgery; D000328:Adult; D019465:Craniofacial Abnormalities / Q000000981:diagnostic imaging* / Q000235:genetics / Q000601:surgery; D005260:Female; D005313:Fetal Death; D006801:Humans; D017880:Limb Deformities, Congenital / Q000000981:diagnostic imaging* / Q000235:genetics / Q000601:surgery; D008297:Male; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D013577:Syndrome; D016896:Treatment Outcome; D016216:Ultrasonography, Prenatal