Literature DB >> 3658865

Colobomata associated with Noonan's syndrome.

L Kleanthous1, D Cruz, E D'Graham, J Efthimiou.   

Abstract

A patient with Noonan's syndrome and fundal colobomata in both eyes is described. To our knowledge, this is the first report of the association of colobomata with Noonan's syndrome. Although the patient had poor sight since early childhood and dyspnea on exertion as a teenager, the diagnosis of Noonan's syndrome was not made until early adulthood. We hope this report will encourage recognition of this syndrome and its implications at an earlier stage.

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Year:  1987        PMID: 3658865      PMCID: PMC2428382          DOI: 10.1136/pgmj.63.741.559

Source DB:  PubMed          Journal:  Postgrad Med J        ISSN: 0032-5473            Impact factor:   2.401


  7 in total

1.  Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease.

Authors:  J A Noonan
Journal:  Am J Dis Child       Date:  1968-10

2.  "Turner phenotypes" vs Noonan's syndrome.

Authors:  F Char
Journal:  JAMA       Date:  1971-04-26       Impact factor: 56.272

3.  Eye signs in Turner's syndrome.

Authors:  S Lessell; A P Forbes
Journal:  Arch Ophthalmol       Date:  1966-08

4.  Noonan's syndrome associated with ocular abnormalities.

Authors:  D E Schwartz
Journal:  Am J Ophthalmol       Date:  1972-06       Impact factor: 5.258

Review 5.  Ocular coloboma.

Authors:  R A Pagon
Journal:  Surv Ophthalmol       Date:  1981 Jan-Feb       Impact factor: 6.048

6.  Ocular findings in Turner syndrome. A prospective study.

Authors:  G A Chrousos; J L Ross; G Chrousos; F C Chu; D Kenigsberg; G Cutler; D L Loriaux
Journal:  Ophthalmology       Date:  1984-08       Impact factor: 12.079

7.  Colobomatous microphthalmia, heart disease, hearing loss, and mental retardation--a syndrome.

Authors:  H M Hittner; N J Hirsch; G M Kreh; A J Rudolph
Journal:  J Pediatr Ophthalmol Strabismus       Date:  1979 Mar-Apr       Impact factor: 1.402

  7 in total
  3 in total

Review 1.  An update on the genetics of ocular coloboma.

Authors:  Aisha S ALSomiry; Cheryl Y Gregory-Evans; Kevin Gregory-Evans
Journal:  Hum Genet       Date:  2019-05-09       Impact factor: 4.132

2.  Deficient FGF signaling causes optic nerve dysgenesis and ocular coloboma.

Authors:  Zhigang Cai; Chenqi Tao; Hongge Li; Raj Ladher; Noriko Gotoh; Gen-Sheng Feng; Fen Wang; Xin Zhang
Journal:  Development       Date:  2013-05-29       Impact factor: 6.868

3.  Ocular findings in Noonan syndrome: a retrospective cohort study of 105 patients.

Authors:  Dorothée C van Trier; Ineke van der Burgt; Renske W Draaijer; Johannes R M Cruysberg; Cees Noordam; Jos M Draaisma
Journal:  Eur J Pediatr       Date:  2018-06-09       Impact factor: 3.183

  3 in total

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