Literature DB >> 2240041

Familial tetralogy of Fallot and glaucoma.

S C Chen1, N D'Souza.   

Abstract

All 3 daughters of a mother with glaucoma had a conotruncal abnormality of the heart and glaucoma. The presence of heart and eye anomaly may be coincidental; however, both may be related to abnormal development of neural crest. The pedigree suggests autosomal dominant inheritance in this family.

Entities:  

Mesh:

Year:  1990        PMID: 2240041     DOI: 10.1002/ajmg.1320370111

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  2 in total

1.  Focal venous hypertension as a pathophysiologic mechanism for tissue hypertrophy, port-wine stains, the Sturge-Weber syndrome, and related disorders: proof of concept with novel hypothesis for underlying etiological cause (an American Ophthalmological Society thesis).

Authors:  Cameron F Parsa
Journal:  Trans Am Ophthalmol Soc       Date:  2013-09

2.  Macular and peripapillary retinal nerve fibre layer thickness in patients with cyanotic congenital heart disease.

Authors:  M C de Aguiar Remigio; C T Brandt; C C L Santos; T E Arantes; M I R de Aguiar
Journal:  Eye (Lond)       Date:  2015-01-16       Impact factor: 3.775

  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.