EN
Sjogren Larsson Syndrome in three siblings of an Indian family
Abstract
Sjogren Larsson Syndrome (SLS) is an uncommon autosomal recessive disorder characterized by intellectual disability, congenital icthyosis and spastic diplegia. Here we report three siblings with SLS from an Indian family with no history of consanguinity. One sibling had unusual features of spasticity and tremors in upper limbs.
Keywords
References
- 1- Sjögren T, Larsson T. Oligophrenia in combination with congenital ichthyosis and spastic disorders.Acta Psychiatr Scand. 1957; 32: 1–108.
- 2- Rizzo WB. Sjogren-Larsson syndrome: Molecular pathogenesis
- dehydrogenase deficiency. Mol Genet Metab. 2007;90:1–9 and fatty of
- aldehyde 3- Jagell S, Heijbel J. Sjögren-Larsson syndrome: features.
- Helv.Paediatr.Acta. 1982;37:519–530 of A 35
- patients. 4- Dhanuka AK, Gupta M. Sjogren - Larsson Syndrome: a case report. Neurology India .2002;50:3:371-2.
- 5- Singh AR. Genetics of Sjögren Larsson Syndrome and a Case Report from India. Int J Hum Genet 2002; 2(4): 223-232.
- 6- Willemsen MA, Ijlst L, Steijlen PM, Rotteveel JJ, de Jong JG, van Domburg PH, et al. Clinical, biochemical and molecular genetic characteristics of 19 patients with the Sjogren- 2001;124:1426–37. syndrome.
Details
Primary Language
English
Subjects
-
Journal Section
-
Publication Date
January 7, 2015
Submission Date
July 1, 2014
Acceptance Date
-
Published in Issue
Year 1970 Volume: 7 Number: 0
APA
Gupta, A., Mishra, G., Jain, A., & Kanta, C. (2015). Sjogren Larsson Syndrome in three siblings of an Indian family. Journal of Pediatric Sciences, 7. https://doi.org/10.17334/jps.15884
AMA
1.Gupta A, Mishra G, Jain A, Kanta C. Sjogren Larsson Syndrome in three siblings of an Indian family. Journal of Pediatric Sciences. 2015;7. doi:10.17334/jps.15884
Chicago
Gupta, Akanksha, Gunjan Mishra, Anubha Jain, and Chandra Kanta. 2015. “Sjogren Larsson Syndrome in Three Siblings of an Indian Family”. Journal of Pediatric Sciences 7 (January). https://doi.org/10.17334/jps.15884.
EndNote
Gupta A, Mishra G, Jain A, Kanta C (January 1, 2015) Sjogren Larsson Syndrome in three siblings of an Indian family. Journal of Pediatric Sciences 7
IEEE
[1]A. Gupta, G. Mishra, A. Jain, and C. Kanta, “Sjogren Larsson Syndrome in three siblings of an Indian family”, Journal of Pediatric Sciences, vol. 7, Jan. 2015, doi: 10.17334/jps.15884.
ISNAD
Gupta, Akanksha - Mishra, Gunjan - Jain, Anubha - Kanta, Chandra. “Sjogren Larsson Syndrome in Three Siblings of an Indian Family”. Journal of Pediatric Sciences 7 (January 1, 2015). https://doi.org/10.17334/jps.15884.
JAMA
1.Gupta A, Mishra G, Jain A, Kanta C. Sjogren Larsson Syndrome in three siblings of an Indian family. Journal of Pediatric Sciences. 2015;7. doi:10.17334/jps.15884.
MLA
Gupta, Akanksha, et al. “Sjogren Larsson Syndrome in Three Siblings of an Indian Family”. Journal of Pediatric Sciences, vol. 7, Jan. 2015, doi:10.17334/jps.15884.
Vancouver
1.Akanksha Gupta, Gunjan Mishra, Anubha Jain, Chandra Kanta. Sjogren Larsson Syndrome in three siblings of an Indian family. Journal of Pediatric Sciences. 2015 Jan. 1;7. doi:10.17334/jps.15884