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Angelman Syndrome - a Rare Case Report
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Angelman Syndrome (AS) was first described in 1965 as "puppet children "characterized by severe neurodevelopmental disability, inability to speak, abnormal motor movement, easily provoked laughter, and epilepsy. Particular mechanisms identified as leading to Angelman Syndrome include deletions of part of the maternally inherited copy of chromosome15.
Here with we report a case of 14 year old girl with Angelman syndrome who presented to the department with complain of painful teeth.
Keywords
Angelman Syndrome, Chromosome 15 Deletions, Mental Retardation, Behavioral Abnormalities
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- Buggenhout GV, Fryns JP. Angelman Syndrome (AS MIM 105830). European Journal of Human Genetics 2009; 1-7
- http://www. o r pha.net/data/patho/GB/uk- Angelman.pdf
- Smith CJ, Pembrey ME. Angelman Syndrome. J. Med Genet 1992; 29: 412-415
- Smiths S. Recognizable patterns of Human Malformations.— Pp 200
- Kara B et al. Angelman syndrome: clinical findings and follow-up data of 14 patients. The Turkish Journal of Pediatrics 2008; 50:137- 142.
- Thompson RJ, Bolton PF. Case Report: Angelman Syndrome in an Individual with a Small SMC(15) and Paternal Uniparental Disomy: A Case Report with Reference to the Assessment of Cognitive Functioning and Autistic Symptomatology. Journal of Autism and Developmental Disorders April 2003; 33(2):
- Smith A et al. Clinical features in 27 patients with Angelman syndrome resulting from DNA deletion. Journal of Med Genet 1996; 33:107-112
- Bower BD, Jeavons PM. The ‘Happy Puppet’ Syndrome. Arch. Dis. Childh. 1967; 42: 298.
- Robb SA, Pohl KRE, Baraister M, Wilson J, Brept EM. The ‘happy puppet’ syndrome of Angelman: review of the clinical features. Archives of Disease in Childhood 1989; 64: 83-86
- Budisteanu M et al. Phenotypic variability in Angelman syndrome- report of two cases. A Journal of Clinical Medicine 2008; 3(3): 192-– 197
- Garavelli L, Mainardi PC . Mowat-Wilson syndrome. Orphanet Journal of Rare Diseases 2007, 2:42
- Gibbons R. Review Alpha thalassaemia-mental retardation,X linked. Orphanet Journal of Rare Diseases 2006, 1:15.
- Phelan M C. Review Deletion 22q13.3 syndrome. Orphanet Journal of Rare Diseases 2008, 3:14.
- Clayton-Smith J, Laan L. Angelman syndrome: a review of the clinical and genetic aspects. J Med Genet. 2003 Feb; 40(2): 87-95.
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