Ocular manifestations of Noonan syndrome

Ophthalmic Genetics

Volumn 33, Issue 1, 2012, Pages 1-5

  Da Rocha Pitta Marin, Lenina ^a   Bezerra Gaspar Carvalho Da Silva, Felipe Theodoro ^a   Ferreira De Sá, Luís Carlos ^a   Brasil, Amanda Salem ^a   Pereira, Alexandre ^a   Furquim, Isabel Mosca ^a   Ae Kim, Chong ^a   Bertola, Débora Romeo ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

eye; Noonan syndrome; ocular; ophthalmological characteristics; PTPN11

Indexed keywords

CYCLOPENTOLATE; PROTEIN TYROSINE PHOSPHATASE SHP 2; TROPICAMIDE;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; EYE DISEASE; EYELID; FEMALE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INFANT; MALE; MYOPIA; NOONAN SYNDROME; OPHTHALMOLOGY; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SLIT LAMP;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; EYE ABNORMALITIES; FEMALE; GENOTYPE; HUMANS; INFANT; MALE; MUTATION; NOONAN SYNDROME; PHENOTYPE; PROTEIN TYROSINE PHOSPHATASE, NON-RECEPTOR TYPE 11;

EID: 84856108274     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.3109/13816810.2011.593606     Document Type: Article

References (15)

1. Nora JJ, Nora AH, Sinha AK, Spangler RD, Lubs HÁ,. The Ullrich-Noonan syndrome (Turner phenotype). Am J Dis Child, 1974;127:48-55.
2. Romano AA, Allanson JE, Dahlgren J, et al. Noonan syndrome: clinical features, diagnosis, and management guidelines. Pediatrics 2010;126(4):746-759.
3. Allanson JE. Noonan syndrome. J Med Genet 1987;24:9-13. (Pubitemid 17228867)
4. Tartaglia M, Mehler EL, Goldberg R, et al. Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat Genet 2001;29:465-468. (Pubitemid 34326699)
5. Schubbert S, Zenker M, Rowe SL, et al. Germline KRAS mutation cause Noonan syndrome. Nat Genet 2006;38:331-336.
6. Bertola DR, Pereira AC, Albano LMJ, Oliveira PSL, Kim CA, Krieger JE. PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype. Genet Test 2006;10:186-191. (Pubitemid 44849888)
7. Zenker M, Buheitel G, Rauch R, et al. Genotype-phenotype correlations in Noonan syndrome. J Pediatr 2004;144:368-374. (Pubitemid 38333896)
8. Lee NB, Kelly L, Sharland M. Ocular manifestations of Noonan syndrome. Eye 1992;6:328-334 (Pubitemid 23055180)
9. Alfieri P, Cesarini L, Zampino G, et al. Visual function in Noonan and LEOPARD syndrome. Neuropediatrics 2008;39:335-340.
10. van der Burgt I, Berends E, Lommen E, et al . Clinical and molecular studies in a large Dutch family with Noonan syndrome. Am J Med Genet 1994;53(2):187-191. (Pubitemid 24335903)
11. Feingold M, Bossert WH. Normal values for selected physical parameters, an aid to syndrome delineation. Birth Defects 1974;10(13):1-16.
12. Ram SP, Krishna TN. Cardiopathy and ocular abnormalities in Noonan syndrome. Singapore Med J 1994 Aug;35(4):397-399.
13. Schwartz DE. Noonan's syndrome associated with ocular abnormalities. Am J Ophthalmol 1972 Jun;73(6):955-960.
14. Tartaglia M, Kalidas K, Shaw A, et al. PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation and phenotypic heterogeneity. Am J Hum Genet 2002 Jun;70(6):1555-1563. (Pubitemid 34533902)
15. Gelb BD, Tartaglia M. Noonan syndrome and related disorders: dysregulated RAS-mitogen activated protein kinase signal transduction. Hum Mol Genet 2006 Oct 15;15(Spec No. 2):R220-226.