Paediatrica Indonesiana
Vol 59 No 6 (2019): November 2019

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

Md. Mozammel Haque (Department of Pediatrics, 250 Bedded Hospital, Moulvibazar, Sylhet)
Kamrunnaher Shultana (Department of Pediatrics and PICU, Square Hospital Ltd, West Panthapath, Dhaka)
Tahmina Binte Matin (Department of Pediatrics, Railway General Hospital, Kamlapur, Dhaka)
Md. Shohidul Islam Khan (Department of Pediatrics, 250 Bedded Hospital, Moulvibazar, Sylhet)
Abdullah Al Baki (Department of Pediatrics, 250 Bedded Hospital, Moulvibazar, Sylhet)



Article Info

Publish Date
08 Nov 2019

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

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Journal Info

Abbrev

paediatrica-indonesiana

Publisher

Subject

Health Professions Medicine & Pharmacology

Description

Paediatrica Indonesiana is a medical journal devoted to the health, in a broad sense, affecting fetuses, infants, children, and adolescents, belonged to the Indonesian Pediatric Society. Its publications are directed to pediatricians and other medical practitioners or researchers at all levels of ...