Literature DB >> 24395876

Smith-Magneis syndrome: behavioural phenotype mimics ADHD.

Sundar Gnanavel1.   

Abstract

A mentally retarded 7-year-old male child presented with inattention and hyperactivity which was initially diagnosed as attention deficit hyperactivity disorder (ADHD). However, a careful evaluation of symptomatology along with clues provided by specific features of facial dysmorphism in this case along with genetic testing clinched the diagnosis of Smith-Magneis syndrome the behavioural phenotype of which closely resembles ADHD.

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Year:  2014        PMID: 24395876      PMCID: PMC3902389          DOI: 10.1136/bcr-2013-201766

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


  3 in total

Review 1.  [Diagnostic difficulties in Smith-Magenis Syndrome (SMS) on the basis of own experience and literature data].

Authors:  Agnieszka Stembalska; Aleksandra Jakubiak; Robert Śmigiel
Journal:  Med Wieku Rozwoj       Date:  2012 Apr-Jun

Review 2.  [Smith-Magenis syndrome: case report and review].

Authors:  Rubén Bronberg; María Ziembar; Mónica Drut; Ernesto Goldschmidt
Journal:  Arch Argent Pediatr       Date:  2008-04       Impact factor: 0.635

3.  Early behavioural manifestation of Smith-Magenis syndrome (del 17p11.2) in a 4-month-old boy.

Authors:  Christa Einspieler; Hiroyo Hirota; Mariko Yuge; Sunao Dejima; Peter B Marschik
Journal:  Dev Neurorehabil       Date:  2012-06-22       Impact factor: 2.308

  3 in total
  1 in total

1.  Behavioral disturbance and treatment strategies in Smith-Magenis syndrome.

Authors:  Alice Poisson; Alain Nicolas; Pierre Cochat; Damien Sanlaville; Caroline Rigard; Hélène de Leersnyder; Patricia Franco; Vincent Des Portes; Patrick Edery; Caroline Demily
Journal:  Orphanet J Rare Dis       Date:  2015-09-04       Impact factor: 4.123

  1 in total

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