Laurence- Moon- Bardet- Biedle Syndrome – A Case Report
Keywords:
Obesity, Polydactyly, Retinitis Pigmentosa
Abstract
Laurence Moon Bardet Biedle syndrome is a rare, autosomal recessive genetic disorder. It has got wide spectrum of clinical features.Spastic paraplegia is predominant feature in Laurence Moon syndrome and polydactyly and obesity are predominant features in Bardet Biedle syndrome. Pigmentary retinal degeneration, mental retardation and hypogonadism are common to both. We report a case of 7 year old female who presented to us with complaints of night blindness. She showed all ocular features, most of the general features of Laurence Moon Bardet Biedl syndrome and a typical family history.
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References
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6. Kanski J, Bowing B, Clinical ophthalmology;Saundera; 2013.
7. Ryan S, Retina;Saunders;2013.
2. Qureshi T; Ayub; Nasti A R; Ashai M; Laurence-Moon(Bardet) Biedle syndrome, JK-Practitioner 2003;10(3):217-218.
3. Rajasekhar P;Kumar M P; Aalekhya P S;Laurence Moon Bardet Biedle Syndrome – Case Report and Review of Literature. IJSR, Feb 2015;4(2);285-86.
4. Batta R, Mukharjee G. Laurence Moon Bardet Biedl Syndrome (A typical presentation). Indian J Ophthalmol. 1978 Apr;26(1):25-6. [PubMed]
5. Beales PL, Elcioglu N, Woolf AS, Parke D, Flinter FA. Newcriteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey. J Med Genet 1999;36(6):43746. [PubMed[
6. Kanski J, Bowing B, Clinical ophthalmology;Saundera; 2013.
7. Ryan S, Retina;Saunders;2013.
CITATION
DOI: 10.17511/ijmrr.2015.i7.140
Published: 2015-08-31
How to Cite
1.
Arif Nathani M, Karan S, H Saberi SSA, Basith SA. Laurence- Moon- Bardet- Biedle Syndrome – A Case Report. Int J Med Res Rev [Internet]. 2015Aug.31 [cited 2024Nov.21];3(7):773-6. Available from: https://ijmrr.medresearch.in/index.php/ijmrr/article/view/319
Section
Case Report