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All Journal Paediatrica Indonesiana
Kamrunnaher Shultana
Department of Pediatrics and PICU, Square Hospital Ltd, West Panthapath, Dhaka
Health Professions Medicine & Pharmacology

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Laurence-Moon-Bardet-Biedl Syndrome: A case report Md. Mozammel Haque; Kamrunnaher Shultana; Tahmina Binte Matin; Md. Shohidul Islam Khan; Abdullah Al Baki
Paediatrica Indonesiana Vol 59 No 6 (2019): November 2019
Publisher : Indonesian Pediatric Society

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (1395.585 KB) | DOI: 10.14238/pi59.6.2019.349-52

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
Co-Authors Abdullah Al Baki Md. Mozammel Haque Md. Shohidul Islam Khan Tahmina Binte Matin