Literature DB >> 24068150

Do you know this syndrome? Noonan syndrome.

Rogerio Nabor Kondo1, Ligia Márcia Mario Martins, Vivian Cristina Holanda Lopes, Rodrigo Antonio Bittar, Fernanda Mendes Araújo.   

Abstract

Noonan Syndrome is one of the most common genetic syndromes and also an important differential diagnosis in children presenting with syndromic facies similar to Turner's syndrome phenotype. This syndrome is characterized by facial dysmorphism, congenital heart defects, short stature and also a wide phenotypic variation. This article discusses the case of a 10 year-old patient with Noonan syndrome that presented typical facies, cardiac defects (pulmonary dilatation and mitral regurgitation), dental malocclusion, micrognatism, short stature and a certain degree of learning disability.

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Year:  2013        PMID: 24068150      PMCID: PMC3760954          DOI: 10.1590/abd1806-4841.20131934

Source DB:  PubMed          Journal:  An Bras Dermatol        ISSN: 0365-0596            Impact factor:   1.896


  9 in total

Review 1.  Noonan syndrome: clinical features, diagnosis, and management guidelines.

Authors:  Alicia A Romano; Judith E Allanson; Jovanna Dahlgren; Bruce D Gelb; Bryan Hall; Mary Ella Pierpont; Amy E Roberts; Wanda Robinson; Clifford M Takemoto; Jacqueline A Noonan
Journal:  Pediatrics       Date:  2010-09-27       Impact factor: 7.124

2.  An 8-year-old girl with short stature. Noonam syndrome.

Authors:  Barbara K Burton
Journal:  Pediatr Ann       Date:  2007-05       Impact factor: 1.132

Review 3.  Noonan syndrome. An update and review for the primary pediatrician.

Authors:  J A Noonan
Journal:  Clin Pediatr (Phila)       Date:  1994-09       Impact factor: 1.168

Review 4.  [Generalized woolly hair: case report and literature review].

Authors:  Tiago Torres; Susana Machado; Manuela Selores
Journal:  An Bras Dermatol       Date:  2010 Jan-Feb       Impact factor: 1.896

5.  Cardiac findings in 31 patients with Noonan's syndrome.

Authors:  D R Bertola; C A Kim; S M Sugayama; L M Albano; J Wagenführ; R L Moysés; C H Gonzalez
Journal:  Arq Bras Cardiol       Date:  2000-11       Impact factor: 2.000

6.  Health and quality of life in adults with Noonan syndrome.

Authors:  Gerhard Binder; Sabrina Grathwol; Karoline von Loeper; Gunnar Blumenstock; Renate Kaulitz; Clemens Freiberg; Martin Webel; Christina Lissewski; Martin Zenker; Thomas Paul
Journal:  J Pediatr       Date:  2012-04-10       Impact factor: 4.406

Review 7.  Noonan syndrome and clinically related disorders.

Authors:  Marco Tartaglia; Bruce D Gelb; Martin Zenker
Journal:  Best Pract Res Clin Endocrinol Metab       Date:  2011-02       Impact factor: 4.690

8.  The association of keratosis pilaris atrophicans and woolly hair, with and without Noonan's syndrome.

Authors:  V S Neild; J S Pegum; R S Wells
Journal:  Br J Dermatol       Date:  1984-03       Impact factor: 9.302

Review 9.  [Noonan syndrome: from phenotype to growth hormone therapy].

Authors:  Alexsandra C Malaquias; Lize V Ferreira; Silvia C Souza; Ivo J P Arnhold; Berenice B Mendonça; Alexander A L Jorge
Journal:  Arq Bras Endocrinol Metabol       Date:  2008-07
  9 in total
  1 in total

1.  The investigation of quality of life in 87 Chinese patients with disorders of sex development.

Authors:  Chunqing Wang; Qinjie Tian
Journal:  Biomed Res Int       Date:  2015-05-17       Impact factor: 3.411

  1 in total

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