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

Main Article Content

Md. Mozammel Haque
Kamrunnaher Shultana
Tahmina Binte Matin
Md. Shohidul Islam Khan
Abdullah Al Baki

Abstract

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

Article Details

How to Cite
1.
Haque MM, Shultana K, Matin T, Khan MS, Al Baki A. Laurence-Moon-Bardet-Biedl Syndrome: A case report. PI [Internet]. 8Nov.2019 [cited 23Feb.2020];59(6):349-2. Available from: https://paediatricaindonesiana.org/index.php/paediatrica-indonesiana/article/view/2097
Section
Case Report
Received 2019-01-24
Accepted 2019-11-08
Published 2019-11-08

References

1. Khan PA, Nishaat J, Noor S, Fatima N. Laurence-Moon-Bardet-Biedl syndrome: a rare case report in a tertiary care teaching hospital, Hyderabad, Telangana, India. Int J Med Public Health. 2017; 7: 68-71.
2. Andrade LJ, Andrade R, França CS, Bittencourt AV. Pigmentary retinopathy due to Bardet-Biedl syndrome: case report and literature review. Arq Bras Oftalmol. 2009; 72: 694-96.
3. Okoronkwo NC. A rare classical presentation of Bardet-Biedl syndrome in a three-year-old male from South East Nigeria: a case report. Case Reports Clin Med. 2016; 5: 243-49.
4. Ahmed SN, Shahin MA, Chowdhury R, Ahammad AM, Shazzad MN, Alam MR, et al. A 13-year-old female with Bardet-Biedl syndrome - a case report. Bangladesh J Med. 2015; 26: 31-34.
5. Green JS, Parfrey PS, Harnett JD, Farid NR, Cramer BC, Johnson G, et al. The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome. N Engl J Med. 1989; 321: 1002-1009.
6. Farag TI, Teebi AS. High incidence of Bardet-Biedl syndrome among the Bedouin. Clin Genet. 1989; 36: 463-64.
7. Karaman A. Bardet-Biedl syndrome: a case report. Dermatol Online J. 2008; 14: 9.
8. Sulaiman, Basha SM, Kaladhar GI, Reddy SR. Laurence-Moon-Bardet-Biedl syndrome-a case report. Asian Pac J Health Sci. 2016; 3: 209-11.