Resumo
Definição
História e exame físico
Principais fatores diagnósticos
- história familiar positiva
- baixa estatura
- características faciais dismórficas
- criptorquidia
- anomalias cardíacas
- puberdade tardia
- facilidade para manifestar hematomas ou sangramento
- linfedema
- anomalias pigmentárias
- sobrancelhas e cílios esparsos ou ausentes
- esplenomegalia
Outros fatores diagnósticos
- anormalidades identificadas no pré-natal
- deformidade torácica
- atraso no desenvolvimento/dificuldade de aprendizagem
- anomalias esqueléticas
- fraqueza muscular
- história de malformação renal
Fatores de risco
- história familiar de síndrome de Noonan
- idade paterna avançada
Investigações diagnósticas
Primeiras investigações a serem solicitadas
- eletrocardiograma (ECG)
- ecocardiograma
Investigações a serem consideradas
- Hemograma completo
- perfil de coagulação
- teste genético molecular
- ultrassonografia abdominal
- ultrassonografia renal
Algoritmo de tratamento
todos os pacientes
Colaboradores
Autores
David A. Stevenson, MD
Associate Professor
Department of Pediatrics
Division of Medical Genetics
Stanford University
Stanford
CA
Declarações
DAS has acted as a consultant for Lineagen, GLG, and Alexion, and has given expert testimony. He is on the medical advisory board for parents' support groups for Costello syndrome and CFC syndrome. DAS is an author of a reference cited in this topic. DAS has also been reimbursed by RASopathies Network for attending conferences.
Agradecimentos
Dr David A. Stevenson would like to gratefully acknowledge Dr Judith E. Allanson, the previous contributor to this topic. JEA is an author of a number of references cited in this topic.
Revisores
Liliana N. Contreras, MD
Chief
Endocrine Research Department
Instituto de Investigaciones Médicas Alfredo Lanari
IDIM-CONICET
University of Buenos Aires
Argentina
Declarações
LNC declares that she has no competing interests.
Bruce Gelb, MD
Professor of Pediatrics
Mount Sinai School of Medicine
New York
NY
Declarações
BG received royalties from GeneDx, Correlegan, Preventative Genetics, Baylor College of Medicine, and Harvard Medical School/Partners for genetic testing of Noonan syndrome. BG is an author of a number of references cited in this topic.
Jacqueline Noonan, MD
Professor Emeriti
Department of Pediatrics
College of Medicine
University of Kentucky
Lexington
KY
Declarações
JN is on the Noonan Syndrome Advisory Board for Novo Nordisk and has received payment for speaking at a symposium. JN is an author of a number of references cited in this topic.
Referências
Principais artigos
Jorge AA, Malaquias AC, Arnhold IJ, et al. Noonan syndrome and related disorders: a review of clinical features and mutations in genes of the RAS/MAPK pathway. Horm Res. 2009;71(4):185-93.Texto completo Resumo
Shaw AC, Kalidas K, Crosby AH, et al. The natural history of Noonan syndrome: a long-term follow-up study. Arch Dis Child. 2007 Feb;92(2):128-32.Texto completo Resumo
Allanson JE. Noonan syndrome. J Med Genet. 1987 Jan;24(1):9-13.Texto completo Resumo
Lee DA, Portnoy S, Hill P, et al. Psychological profile of children with Noonan syndrome. Dev Med Child Neurol. 2005 Jan;47(1):35-8. Resumo
Ishizawa A, Oho S, Dodo H, et al. Cardiovascular abnormalities in Noonan syndrome: the clinical findings and treatments. Acta Paediatr Jpn. 1996 Feb;38(1):84-90. Resumo
Romano AA, Allanson JE, Dahlgren J, et al. Noonan syndrome: clinical features, diagnosis, and management guidelines. Pediatrics. 2010 Oct;126(4):746-59. Resumo
Raaijmakers R, Noordam C, Karagiannis G, et al. Response to growth hormone treatment and final height in Noonan syndrome in a large cohort of patients in the KIGS database. J Pediatr Endocrinol Metab. 2008 Mar;21(3):267-73. Resumo
Artigos de referência
Uma lista completa das fontes referenciadas neste tópico está disponível para os usuários com acesso total ao BMJ Best Practice.
Diagnósticos diferenciais
- Síndrome de Turner
- síndrome de LEOPARD (lentigos múltiplos)
- Síndrome cárdio-fácio-cutânea
Mais Diagnósticos diferenciaisDiretrizes
- Noonan syndrome: clinical features, diagnosis, and management guidelines
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