Open AccessLaurence Moon Bardet Biedl Syndrome Presenting as Refractory Hyperkalaemia - Explore Everything
Author(s) -
Maharshi Patel,
Dhruv Talwar,
Aayush Dubey,
Sunil Kumar
Publication year - 2021
Publication title -
journal of evolution of medical and dental sciences
Language(s) - English
Resource type - Journals
eISSN - 2278-4802
pISSN - 2278-4748
DOI - 10.14260/jemds/2021/601
Subject(s) - brachydactyly , retinitis pigmentosa , medicine , bardet–biedl syndrome , polydactyly , syndactyly , pediatrics , dermatology , ophthalmology , surgery , short stature , anatomy , retinal , genetics , biology , gene , phenotype
Laurence Moon Bardet Biedl syndrome (LMBBS) / Bardet–Biedl disorder (BBS) is an uncommon hereditary disease that is autosomally recessive. It is described by obesity, mental hindrance, dysphoric furthest points (syndactyly, brachydactyly, or polydactyly), retinal dystrophy or retinitis pigmentosa, hypogonadism, and renal abnormalities (among the prevailing aspects).1 LMBBS shares its similarities with Oliver McFarlane syndrome [OMS]. Many patients experienced a gradual loss of vision as a result of retinitis pigmentosa. In retinitis pigmentosa, initially, patients will have night blindness which can be progressed into colour blindness and tunnel vision. Patients of LMBBS may have taurodontism, the condition in which the tooth’s body is greater than the roots.2 Patients of LMBBS can develop chronic renal failure.3 Other features such as brachycephaly, learning disability and gait ataxia can be found in LMBBS patients.