| Autor: |
Ena Arora, MD, Aleksandr Fuks, MD, Jessica Meyer, MD, Judith Chervenak, MD |
| Jazyk: |
angličtina |
| Rok vydání: |
2023 |
| Předmět: |
|
| Zdroj: |
Radiology Case Reports, Vol 18, Iss 1, Pp 326-330 (2023) |
| Druh dokumentu: |
article |
| ISSN: |
1930-0433 |
| DOI: |
10.1016/j.radcr.2022.10.040 |
| Popis: |
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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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