Literature DB >> 8725790

Cardio-facio-cutaneous (CFC) syndrome: report of an adult without mental retardation.

S Manoukian1, F Lalatta, A Selicorni, G Tadini, R Cavalli, G Neri.   

Abstract

We report on a 25-year-old woman with typical manifestations of the cardio-facio-cutaneous (CFC) syndrome, but without mental retardation. She had valvular and infundibular pulmonic stenosis, brittle and woolly hair with patchy alopecia, scant body hair, dry and hypohydrotic skin, and characteristic facial traits. To our knowledge, this is the first case of CFC syndrome without mental retardation but typical cutaneous findings.

Entities:  

Mesh:

Year:  1996        PMID: 8725790     DOI: 10.1002/(SICI)1096-8628(19960517)63:2<382::AID-AJMG11>3.0.CO;2-G

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


  2 in total

1.  Sex ratio in normal and disomic sperm: evidence that the extra chromosome 21 preferentially segregates with the Y chromosome.

Authors:  D K Griffin; M A Abruzzo; E A Millie; E Feingold; T J Hassold
Journal:  Am J Hum Genet       Date:  1996-11       Impact factor: 11.025

Review 2.  The cardiofaciocutaneous syndrome.

Authors:  A Roberts; J Allanson; S K Jadico; M I Kavamura; J Noonan; J M Opitz; T Young; G Neri
Journal:  J Med Genet       Date:  2006-07-06       Impact factor: 6.318

  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.