Title: A Rare Association of Bardet-Biedl Syndrome with Autism: Case Report

Authors: Dr Santosh Kumar, Dr Jagriti Narayan, Dr Satya Prakash, Shankaram, Dr Prabhabati Bannerji 

 DOI:  https://dx.doi.org/10.18535/jmscr/v4i11.97

Abstract

Bardet-Biedl syndrome (BBS) is a rare autosomal recessive condition characterized by retinitis pigmentosa, postaxial polydactyly, obesity, mental retardation, hypogonadism and renal anomalies. Autism is rarely described in literature with BBS. Although mental retardation is generally associated with Bardet-Biedl (BBS) syndrome, autism is an unusual comorbidity.

Keywords: Bardet-Biedl syndrome; Autism

References

1.      Amman F. Investigations cliniques et ge netiques sur le syndrome de Bardet-Biedl en Suisse. J Genet Hum. 1970;18:1-310.

2.      Beales PL,ElciogluN,WoolfAS, et al. New criteriaforimproved diagnosis of Bardet-Biedlsyndrome: results of a population survey. JMed Genet 1999;36:437–46

3.      Patra S, Arun P. Use of Indian scale for assessment of autism in child guidance clinic: an experience. Indian J Psychol Med 2011;33:217–19.

4.      Beales PL, Elcioglu N, Woolf AS, et al. New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey. J Med Genet 1999;36:437–46.         

5.      Kristine T, Remulla J, Santiago A. Manifestations of Bardet-Beidl syndrome. Phillip J Ophthalmol2004;29:94–8.

6.      Ozer G, Yuksel B, Suleymanova D, et al. Clinical features of Bardet-Biedl syndr-ome. Acta Paediatr Jpn 1995;37:233–6.

7.      Barnett S, Reilly S, Carr L, et al. Behavioural phenotype of Bardet-Biedl syndrome. J Med Genet 2002;39:e76.

8.      Kumar S  , Kumari R ,Narayan J, Prabha R, et al. Bardet-Biedl syndrome with Autism: Case Report. IJIR vol 2, 2016;10: 255

Corresponding Author

Dr Santosh Kumar

F-110, New Doctors Hostel, MGM Campus, Kishanganj, Bihar

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