scholarly journals Bardet-Biedl Syndrome With Renal, Cardiac, and Genitourinary Malformations: A Case Report

Cureus ◽  
2021 ◽  
Author(s):  
Madeeha Subhan Waleed ◽  
Ashok Abraham Varughese ◽  
Vineeth Amba ◽  
Radhika Pathalapati
Keyword(s):  
Case Report ◽  
Bardet Biedl Syndrome

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 Clinical diagnosis of Bardet-Biedl syndrome: A case report

eOftalmo ◽  
2018 ◽  
Vol 4 (4) ◽  
Author(s):  
Natália Maia de Faria ◽  
Lívia Freire Reis ◽  
Josué Geraldo Lessa
Keyword(s):  
Case Report ◽  
Clinical Diagnosis ◽  
Bardet Biedl Syndrome

scholarly journals A Case of Hydrometrocolpos and Polydactyly

2015 ◽  
Vol 9 ◽  
pp. CMPed.S20787 ◽  
Author(s):  
Deepak Sharma ◽  
Srinivas Murki ◽  
Oleti Tejo Pratap ◽  
G.M. Irfan ◽  
Geeta Kolar
Keyword(s):  
Case Report ◽  
Retinal Degeneration ◽  
Renal Dysplasia ◽  
Mullerian Duct ◽  
Mental Impairment ◽  
Bardet Biedl Syndrome ◽  
Cardiac Anomalies ◽  
Postaxial Polydactyly ◽  
Müllerian Duct Anomaly ◽  
Stimulation Of

Neonatal hydrometrocolpos (HMC) is a rare Mullerian duct anomaly with an incidence of 0.006%. It occurs due to blockage of the vagina with accumulation of mucus secretions proximal to the obstacle. These secretions are secondary to intrauterine and postnatal stimulation of uterine and cervical glands by maternal estrogens. A triad of congenital HMC, Polydactyly, and cardiac anomalies are the cardinal features of McKusick-Kaufman syndrome, which is also known as hydrometrocolpos-polydactyly syndrome. Bardet-Biedl syndrome is a well-known combination of hypogonadism, obesity, postaxial polydactyly, renal dysplasia, retinal degeneration, and mental impairment. In this case report, we describe a neonate with HMC, Polydactyly, and hydronephrosis.

scholarly journals Brachyonychia in a patient with Bardet-Biedl syndrome: Case report and review of this rare syndrome

2019 ◽  
Vol 5 (8) ◽  
pp. 672-674
Author(s):  
Shannon Q. Detty ◽  
Molly A. Hinshaw ◽  
Michael J. Tuite ◽  
Alexander D. Means
Keyword(s):  
Case Report ◽  
Bardet Biedl Syndrome ◽  
Rare Syndrome

scholarly journals Bardet-Biedl Syndrome- Polydactyly with Multifarious Defects - A Rare Case Report

2020 ◽  
Vol 7 (11) ◽  
pp. 580-583
Author(s):  
Rejinraj P.K. ◽  
Sumesh Chacko ◽  
John Nobel Thomas ◽  
Sukanya K. ◽  
Punnose Thomas Puthuveettil
Keyword(s):  
Case Report ◽  
Rare Case ◽  
Bardet Biedl Syndrome ◽  
Rare Case Report

Laurence Moon Bardet Biedl Syndrome-A Case Report

2016 ◽  
Vol 3 (4) ◽  
pp. 209-211
Author(s):  
Sulaiman Sulaiman ◽  
◽  
S Mahaboob Basha ◽  
G Indu Kaladhar ◽  
S Rakesh Reddy ◽  
...  
Keyword(s):  
Case Report ◽  
Bardet Biedl Syndrome

Bardet-Biedl Syndrome (BBS12) with Chronic Kidney Disease-CKD G5: A Rare Case Report from India

2021 ◽  
pp. 1
Author(s):  
Ravi Tatapudi ◽  
Satyanarayana Rentala ◽  
Ramya Varada ◽  
Aruna Komarraju ◽  
Anusha Pusapati
Keyword(s):  
Chronic Kidney Disease ◽  
Case Report ◽  
Kidney Disease ◽  
Rare Case ◽  
Bardet Biedl Syndrome ◽  
Rare Case Report
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