Abstract
We report a 3-year-old girl with the cardiofacio-cutaneous (CFC) syndrome. She presented the typical combination of mild developmental delay, postnatal onset short stature with relative macrocephaly, a wide and prominent forehead with posteriorly rotated ears and down-slanting palpebral fissures, an atrial septal defect, and ectodermal abnormalities. All cases reported to date occurred sporadically. The actiology remains unknown; de novo mutations of an autosomal dominant gene seem the most likely explanation.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
Abbreviations
- CFC:
-
cardio-facio-cutaneous
- OFC:
-
occipitofrontal circumference
References
Baraitser M, Patton MA (1986) A Noonan-like short stature syndrome with sparse hair. J Med Genet 23:161–164
Blumberg B, Shapiro L, Punnett H, Rimoin D, Kirtenmacher M (1979) A new mental retardation syndrome with characteristic facies, ichthyosis and abnormal hair (abstract). March of Dimes, Birth Defects Conference
Cantú JM, Sánchez-Corona J, Hernándes A, Nazará Z, Garciá-Cruz D (1982) Individualization of a syndrome with mental deficiency, macrocranium, peculiar facies, and cardiac and skeletal anomalies. Clin Genet 22:172–179
Chrzanowska K, Fryns JP, Van den Berghe H (1989) Cardiofacio-cutaneous (CFC) syndrome: report of a new patient. Am J Med Genet 33:471–473
Mucklow ES (1989) A case of cardo-facio-cutaneous syndrome. Am J Med Genet 33:474–475
Neri G, Sabatino G, Bertini E, Genuardi M (1987) The CFC syndrome. Report of the first two cases outside the United States. Am J Med Genet 27:767–771
Reynolds JF, Neri G, Herrmann JP, Blumberg B, Coldwell JG, Miles PV, Opitz JM (1986) New multiple congenital anomalies/mental retardation syndrome with cardio-facio-cutaneous in-volvement—the CFC syndrome. Am J Med Genet 25:413–427
Sorge G, Di Forti F, Scarano G, Ventruto V, Zelante L, Dallapiccola B (1989) CFC syndrome: report on three additonal cases. Am J Med Genet 33:476–478
Verloes A, Le-Merrer M, Soyeur D, Kaplan J, Pangalos C, Rigo J, Briard ML (1988) CFC syndrome: A syndrome distinct from Noonan syndrome. Ann Genet (Paris) 31:230–234
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Bottani, A., Hammerer, I. & Schinzel, A. The cardio-facio-cutaneous syndrome: report of a patient and review of the literature. Eur J Pediatr 150, 486–488 (1991). https://doi.org/10.1007/BF01958429
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF01958429