Prenatal diagnosis of Bardet Biedl Syndrome: A case report

Ena Arora, Aleksandr Fuks, Jessica Meyer, Judith Chervenak

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)326-330
Number of pages5
JournalRadiology Case Reports
Volume18
Issue number1
DOIs
StatePublished - Jan 2023

Keywords

  • Autosomal recessive
  • Bardet Biedl
  • Ciliopathy
  • Obstructive uropathy

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