Literature DB >> 22675103

Happy Puppet syndrome.

Priyanka Airen Sarkar1, Anand Shigli, Chetan Patidar.   

Abstract

Happy Puppet syndrome is characterised by a partial deficit of paired autosomal chromosome 15. It is a neuro-genetic disorder characterised by intellectual and developmental delay, sleep disturbance, seizures, jerky movements (especially hand-flapping), frequent laughter or smiling and usually a happy demeanour. It is also called as Angelman syndrome (AS). People with AS are sometimes known as 'angels', both because of the syndrome's name and because of their youthful, happy appearance. A 6.5-year-old girl is presented and clinical suspicion of AS was raised at the age of 4 years when she presented with mental retardation and epilepsy, absence of speech, inability to gait and unprovoked episodes of laughter. Fluorescent in situ hybridisation chromosomal analysis revealed micro deletion on the maternally derived allele of 15q chromosome.

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Year:  2011        PMID: 22675103      PMCID: PMC3207767          DOI: 10.1136/bcr.09.2011.4747

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN: 1757-790X


  8 in total

Review 1.  Angelman syndrome (AS, MIM 105830).

Authors:  Griet Van Buggenhout; Jean-Pierre Fryns
Journal:  Eur J Hum Genet       Date:  2009-05-20       Impact factor: 4.246

Review 2.  Angelman syndrome: etiology, clinical features, diagnosis, and management of symptoms.

Authors:  Renzo Guerrini; Romeo Carrozzo; Roberta Rinaldi; Paolo Bonanni
Journal:  Paediatr Drugs       Date:  2003       Impact factor: 3.022

Review 3.  Epilepsy in patients with Angelman syndrome.

Authors:  Agata Fiumara; Annarita Pittalà; Mariadonatella Cocuzza; Giovanni Sorge
Journal:  Ital J Pediatr       Date:  2010-04-16       Impact factor: 2.638

4.  Anesthesia of a dental patient with Angelman syndrome -A case report-.

Authors:  Bo Sung Kim; Jin Seok Yeo; Si Oh Kim
Journal:  Korean J Anesthesiol       Date:  2010-02-28

5.  Dental treatment of children with Angelman syndrome: a case report.

Authors:  Christiana Murakami; Maria Salete Nahás Pires Corrêa; Fernanda Nahás Pires Corrêa; José Paulo Nahás Pires Corrêa
Journal:  Spec Care Dentist       Date:  2008 Jan-Feb

Review 6.  Angelman syndrome: a review of the clinical and genetic aspects.

Authors:  J Clayton-Smith; L Laan
Journal:  J Med Genet       Date:  2003-02       Impact factor: 6.318

7.  Angelman syndrome: consensus for diagnostic criteria. Angelman Syndrome Foundation.

Authors:  C A Williams; H Angelman; J Clayton-Smith; D J Driscoll; J E Hendrickson; J H Knoll; R E Magenis; A Schinzel; J Wagstaff; E M Whidden
Journal:  Am J Med Genet       Date:  1995-03-27

Review 8.  Clinical and genetic aspects of Angelman syndrome.

Authors:  Charles A Williams; Daniel J Driscoll; Aditi I Dagli
Journal:  Genet Med       Date:  2010-07       Impact factor: 8.822

  8 in total

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