Laurence -Moon-Bardet- Biedl syndrome with Diabetes Mellitus

Authors

  • Monzoor Quader Department of Medicine, BSMMU
  • Mohammad Syedul Islam Department of Medicine, BSMMU
  • Quazi Mamatz Uddin Ahmed Department of Medicine, BSMMU
  • Md Abul Kalam Azad Department of Medicine, BSMMU
  • Md Abdur Rahim Department of Medicine, BSMMU

DOI:

https://doi.org/10.3329/jom.v13i1.10083

Keywords:

Laurence-Moon-Bardet-Biedl syndrome, Obesity, Polydactyly, Retinitis pigmentosa

Abstract

A 13 year old boy presented with obesity, reduced vision, mental retardation, hypogonadism, delayed development and learning difficulty. On examination, he had polydactyly, moon face, bilateral gynaecomastia, small penis and testis. Retinitis pigmentosa was found on fundoscopy. With these typical features, he was diagnosed as a case of Laurence-Moon-Bardet-Beidle syndrome. It is a rare autosomal recessive disorder with mutation in 6 loci identified so far. It is commonly found in communities with high inter-family marriage. Clinical features appear early in childhood and diagnosis is usually done by puberty. Prominent features include rod-cone dystrophy leading to blindness, postaxial polydactyly, central obesity, learning disability, hypogonadism in males, renal dysfunction with increased risk for renal cell carcinoma.

DOI: http://dx.doi.org/10.3329/jom.v13i1.10083

JOM 2012; 13(1): 97-99

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How to Cite

Quader, M., Islam, M. S., Uddin Ahmed, Q. M., Kalam Azad, M. A., & Rahim, M. A. (2012). Laurence -Moon-Bardet- Biedl syndrome with Diabetes Mellitus. Journal of Medicine, 13(1), 97–99. https://doi.org/10.3329/jom.v13i1.10083

Issue

Section

Case Reports