The cardio-facio-cutaneous syndrome: report of a patient and review of the literature
β Scribed by A. Bottani; I. Hammerer; A. Schinzel
- Publisher
- Springer
- Year
- 1991
- Tongue
- English
- Weight
- 522 KB
- Volume
- 150
- Category
- Article
- ISSN
- 0340-6997
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
## Abstract We report on 3 patients with the cardioβfaciocutaneous (CFC) syndrome. Each of them was a sporadic case in the family. The severity of the psychomotor retardation varied from mild to severe. Skin manifestations were often minimal, but each patient had abnormally curly and brittle hair.
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