Prenatal diagnosis of Bardet Biedl Syndrome: A case report.
Publication/Presentation Date
1-1-2023
Abstract
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.
Volume
18
Issue
1
First Page
326
Last Page
330
ISSN
1930-0433
Published In/Presented At
Arora, E., Fuks, A., Meyer, J., & Chervenak, J. (2022). Prenatal diagnosis of Bardet Biedl Syndrome: A case report. Radiology case reports, 18(1), 326–330. https://doi.org/10.1016/j.radcr.2022.10.040
Disciplines
Medicine and Health Sciences
PubMedID
36406960
Department(s)
Department of Obstetrics and Gynecology
Document Type
Article