| Literature DB >> 33585106 |
Vijayakumary Thadchanamoorthy1, Nadeesha Jayasekara2, Kavinda Dayasiri3.
Abstract
Laurence-Moon-Bardet-Biedl syndrome (LMBBS) is a rare ciliopathic genetic multisystem disorder. It has several primary and secondary clinical features, which include central obesity, retinitis pigmentosa, mental subnormalities, polydactyly, and renal dysfunction. The majority of children may not show all clinical features at birth, and clinical features can develop progressively over the years. The authors report two children who were followed up for obesity at the pediatric clinic in the local hospital and the ophthalmology clinic at the tertiary care center, respectively, without a diagnosis, and were referred for specialist pediatric evaluation of hypertension detected on their routine checkup and for further management. Both children were investigated and found to have satisfied criteria for LMBBS in association with primary hypertension. Both children were diagnosed late as LMBBS at 12 years and four years of their age although both of them had enough features to have a suspicion of this syndrome.Entities:
Keywords: autosomal recessive; brachydactyly; hypertension; hypogonadism; laurence-moon-bardet-biedl syndrome; obesity; polydactyly; retinitis pigmentosa
Year: 2021 PMID: 33585106 PMCID: PMC7873780 DOI: 10.7759/cureus.12617
Source DB: PubMed Journal: Cureus ISSN: 2168-8184