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
Keywords: obesity; retinitis pigmentosa; polydactyly; mental retardationpigmentosa

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

References

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Published
2019-11-08
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 25Sep.2022];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