scholarly journals Bardet Biedl Syndrome

2013 ◽  
Vol 33 (2) ◽  
pp. 129-131
Author(s):  
Taraknath Ghosh ◽  
Sangita De ◽  
Sananda Pati ◽  
Prabhat Kumar ◽  
Bhusan Chaki
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Retinitis Pigmentosa ◽  
Family Member ◽  
Fallopian Tube ◽  
Mild Mental Retardation ◽  
Bardet Biedl Syndrome ◽  
Consanguinous Marriage

This is a case report of Bardet-Biedl syndrome, diagnosed in a 8 year old girl presented with obesity. She had polydactyly, mild mental retardation, retinitis pigmentosa in both eyes, with hypoplastic uterus, fallopian tube and ovaries. She was born to a consanguinous marriage and had a family member with same features. DOI: http://dx.doi.org/10.3126/jnps.v33i2.7359   J Nepal Paediatr Soc. 2013; 33(2):129-131

scholarly journals A 13-year-old Female with Bardet- Biedl Syndrome - A Case Report

2015 ◽  
Vol 26 (1) ◽  
pp. 31-34
Author(s):  
Syed Nesar Ahmed ◽  
Md Abu Shahin ◽  
Romal Chowdhury ◽  
Alamgir Mustak Ahammad ◽  
Md Nahiduzzaman Shazzad ◽  
...  
Keyword(s):  
Case Report ◽  
Retinitis Pigmentosa ◽  
Rare Disease ◽  
Clinical Features ◽  
Night Blindness ◽  
Learning Difficulties ◽  
Laboratory Findings ◽  
Bardet Biedl Syndrome

Bardet Biedl syndrome is a rare disease. A case report is presented here where a 13 years old girl presented with obesity, night blindness, learning difficulties and polydactyly. Obesity and night blindness started from since childhood. Her milestones of development were normal but having some learning difficulties. Her parents are healthy as well as her siblings. On examination she looks apathy, extreme obese, having polydactyly and retinitis pigmentosa and high B.P. On laboratory findings there is only dyslipidaemia. On the basis of clinical features she was diagnosed as a case of Bardet-Biedl syndrome.Bangladesh J Medicine Jan 2015; 26 (1) : 31-34

scholarly journals Partial deletion of the long arm of chromosome 7: a case report

Open Medicine ◽  
2018 ◽  
Vol 13 (1) ◽  
pp. 433-435 ◽  
Author(s):  
Chun Zhu ◽  
Mei-Ling Tong ◽  
Xia Chi
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Bone Age ◽  
Chromosome 7 ◽  
Facial Features ◽  
Mild Mental Retardation ◽  
Partial Deletion ◽  
Nasal Bridge ◽  
Case Presentations ◽  
Broad Nasal Bridge

AbstractStudy advances with a childhood case of partial deletion of the long arm of chromosome 7. The patient is a 36-month-old girl with growth retardation, mild mental retardation and delayed bone age. She showed no signs of hypotelorism, upslanting palpebral fissures, epicanthal folds, low-set ears, or flat and broad nasal bridge. Microarray testing using the Affymetrix CytoScan HD array revealed an approximately 58 kb deletion at 7q31.1 in the girl and her father, suggesting paternal origin. As the patient had no characteristic facial features, 7q deletions had not been considered. This case broadens the range of case presentations for microdeletions of chromosome 7.

scholarly journals Bardet Biedel Syndrome: a Rare Cause of Chronic Kidney Disease

2016 ◽  
Vol 14 (1) ◽  
pp. 41-42
Author(s):  
Tuba Demirci Yildirim ◽  
Mehmet Can Ugur ◽  
Utku Erdem Soyaltin ◽  
Harun Akar
Keyword(s):  
Chronic Kidney Disease ◽  
Mental Retardation ◽  
Kidney Disease ◽  
Retinitis Pigmentosa ◽  
Neurological Manifestations ◽  
Bardet Biedl Syndrome

AbstractBardet Biedl syndrome (BBS) is characterized by obesity, retinitis pigmentosa, hypogonadism, mental retardation and polydactyly. Additionally, renal, cardiac and neurological manifestations may be seen. We report a case of BBS with chronic kidney disease (CKD) at the age of 43.

scholarly journals RUBINSTEIN – TAYBI IN SYNDROME A PERUVIAN PATIENT WITH MILD MENTAL RETARDATION: A CASE REPORT / SÍNDROME DE RUBINSTEIN - TAYBI EM UM PACIENTE PERUANO COM LEVE RETARDO MENTAL: UM RELATO DE CASO

2020 ◽  
Vol 6 (8) ◽  
pp. 63905-63914
Author(s):  
Pedro Teixeira Meireles ◽  
Mateus Borges Soares ◽  
Diego Rodrigues Naves Barbosa Lacerda ◽  
Bruno Belmonte Martineli Gomes ◽  
Eduardo Elias Vieira de Carvalho ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Mild Mental Retardation

Postictal psychosis and aripiprazole treatment in an adolescent with epilepsy and mild mental retardation: Case report

2014 ◽  
Vol 15 ◽  
pp. 1
Author(s):  
Serkan Karadeniz ◽  
Mutlu Karakus ◽  
Busra Duran ◽  
Canan Ince ◽  
Sema Kandil
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Mild Mental Retardation

scholarly journals Laurence-Moon-Bardet-Biedl Syndrome: A case report

2019 ◽  
Vol 59 (6) ◽  
pp. 349-52
Author(s):  
Md. Mozammel Haque ◽  
Kamrunnaher Shultana ◽  
Tahmina Binte Matin ◽  
Md. Shohidul Islam Khan ◽  
Abdullah Al Baki
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Autosomal Recessive ◽  
Genetic Disorder ◽  
Retinal Pigment ◽  
Clinical Signs ◽  
Mental Deficiency ◽  
Cone Dystrophy ◽  
Anal Atresia ◽  
Bardet Biedl Syndrome

Laurence-Moon-Bardet-Beidl syndrome is a rare ciliopathic and pleiotropic human autosomal recessive genetic disorder.1 In 1886, Laurence and Moon explained a case of a 7-year-old female with rod-cone dystrophy, hypogenitalism, mental retardation, obesity, and polydactyly. In 1920, Bardet described a 4-year-old female patient presented with rod-cone dystrophy, obesity, polydactyly (11 toes), and mental retardation.1 Two years after Bardet’s report, Biedl highlighted the complete scenario of clinical signs which includes skull abnormalities, anal atresia, mental deficiency, and gastrointestinal conflicts.1 Since these discoveries, symptoms such as obesity, hypogonadism, retinal pigment defects, psychological hindrance, and polydactylismin in several conditions as combinations, frequently in children with normal parents (cousin marriages) has been termed as Laurence-Moon-Bardet-Biedl syndrome (LMBBS).1

scholarly journals Bardet Biedl Syndrome: A Case Report

2019 ◽  
Vol 9 (2) ◽  
pp. 162-164
Author(s):  
Md Masud Un Nabi ◽  
Md Faruque Pathan ◽  
Milton Barua
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Night Blindness ◽  
Autosomal Recessive ◽  
Liver Enzymes ◽  
Autosomal Recessive Disorder ◽  
Bardet Biedl Syndrome ◽  
Elevated Liver Enzymes ◽  
Hormonal Evaluation

Bardet Biedl syndrome is a rare heterogenous autosomal recessive disorder. A very few cases were reported in Bangladesh. A 12-year-old boy presented with childhood obesity, polydactyly in all 4 limbs, bilateral gynaecomastia, acanthosisnigricans, night blindness and mental retardation. After hormonal evaluation he was found to have hypogonadotrophichypogonadism, dislipidaemia, renal impairment, elevated liver enzymes and retinitis pigmentosa. We advised him to reduce weight and implemented and weight reducing diet. Levothyroxine and metformin were started. He was scheduled for eye check-up every 3 months and follow up at endocrinology. Birdem Med J 2019; 9(2): 162-164

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