A rare case of Bardet–Biedl syndrome

We report here a rare case of Bardet–Biedl syndrome (BBS). A 7-year-old boy was diagnosed to have BBS based on the clinical features: retinitis pigmentosa sine pigmento, obesity, postaxial polydactyly, syndactyly, and hypogenitalism. It was associated with mild hepatomegaly with deranged liver funct...

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Detalles Bibliográficos
Autores principales: Shrinkhal, Singh, Anupam, Agrawal, Ajai, Mittal, Sanjeev Kumar, Udenia, Hemlata, Bandu, Ghawghawe Harshad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7442099/
https://www.ncbi.nlm.nih.gov/pubmed/32874845
http://dx.doi.org/10.4103/tjo.tjo_62_19
Descripción
Sumario:We report here a rare case of Bardet–Biedl syndrome (BBS). A 7-year-old boy was diagnosed to have BBS based on the clinical features: retinitis pigmentosa sine pigmento, obesity, postaxial polydactyly, syndactyly, and hypogenitalism. It was associated with mild hepatomegaly with deranged liver function test and mild renal involvement radiologically, high-arched palate, and low intelligence quotient. The patient was prescribed proper refractive correction and subjected to multidisciplinary management. BBS has ocular and systemic manifestations, requiring a multidisciplinary approach to treatment.

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