Literature DB >> 1642266

TAR-like syndrome in a consanguineous Mayan girl.

J M Ceballos-Quintal1, D Pinto-Escalante, R A Gongora-Biachi.   

Abstract

We report on a 3-month-old girl with a TAR-like syndrome. Her older brother died with a similar disorder at 3 months of unknown causes. The parents are second cousins of Mayan ancestry. The infant also had, in addition to the usual abnormalities of TAR syndrome, depressed nasal bridge, cataracts, glaucoma, megalocorneae, and blue sclerae.

Entities:  

Mesh:

Year:  1992        PMID: 1642266     DOI: 10.1002/ajmg.1320430510

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


  1 in total

1.  Thrombocytopenia and absent radii (TAR) syndrome associated with bilateral congenital cataract: a case report.

Authors:  Ahmed Omran; Shaimaa Sahmoud; Jing Peng; Usman Ashhab; Fei Yin
Journal:  J Med Case Rep       Date:  2012-06-28
  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.