Literature DB >> 2596507

CFC syndrome: report on three additional cases.

G Sorge1, F Di Forti, G Scarano, V Ventruto, L Zelante, B Dallapiccola.   

Abstract

We describe three patients, originating from three different Italian localities, affected by the cardio-facio-cutaneous (CFC) syndrome. In addition to a varying degree of mental retardation, these patients present characteristics consisting of a peculiar face with bitemporal frontal constriction and other anomalies involving the eyes, nose, ears, hair, skin, and heart that are consistent with this diagnosis.

Entities:  

Mesh:

Year:  1989        PMID: 2596507     DOI: 10.1002/ajmg.1320330412

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


  2 in total

1.  Cardiofaciocutaneous syndrome with new ectodermal manifestations.

Authors:  P D Turnpenny; J C Dean; I A Auchterlonie; A W Johnston
Journal:  J Med Genet       Date:  1992-06       Impact factor: 6.318

Review 2.  The cardio-facio-cutaneous syndrome: report of a patient and review of the literature.

Authors:  A Bottani; I Hammerer; A Schinzel
Journal:  Eur J Pediatr       Date:  1991-05       Impact factor: 3.183

  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.