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Cardiofaciocutaneous Syndrome

Cardiofaciocutaneous Syndrome Abstract To the Editor.— Since Navaratnam and Hodgson1 described the first patient in 1973, there have been 24 reported cases of the cardiofaciocutaneous (CFC) syndrome, a genetic disorder of unknown cause with characteristic facies, cardiac defects, mental retardation, and cutaneous abnormalities. The cause of this disorder is presently unknown, and, although a genetic defect has been suggested, its exact pattern of inheritance is unclear. We describe a young boy with CFC syndrome who, in addition to the typical multisystem features, demonstrated café au lait lesions, acanthosis nigricans, and a syringocystadenoma papilliferum. Report of a Case.— Our patient, an 8-year-old boy born to unrelated Italian parents, was admitted to The Johns Hopkins Hospital, Baltimore, Md, for evaluation of severe mental retardation and self-injurious behavior. He had the characteristic facies of the CFC syndrome, including bitemporal constriction, hypertelorism, epicanthal folds, severe ptosis, a flattened nasal bridge, and low-set and posteriorly rotated ears References 1. Navaratnam AED, Hodgson GA. Ulerythema ophryogenes with mental retardation . Proc R Soc Med. 1973;66:233-234. 2. McKusick VA. Mendelian Inheritance in Man . 8th ed. Baltimore, Md: The Johns Hopkins University Press; 1988. 3. Fryer A, Holt PJ, Hughes HE. The cardiofaciocutaneous (CFC) syndrome and Noonan syndrome: are they the same? Am J Med Genet. 1991;38: 548-551.Crossref 4. Reynolds JF, Neri G, Herrmann JP, et al. New multiple congenital anomalies/mental retardation syndrome with cardiofaciocutaneous involvement: the CFC syndrome . Am J Med Genet. 1986;25:413-427.Crossref 5. Pierard G, Soyeyr-Broux M, Estrada JA, et al. Cutaneous manifestations of the cardiofacio-cutaneous syndrome . J Am Acad Dermatol. 1990;22:920-922.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Dermatology American Medical Association

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Publisher
American Medical Association
Copyright
Copyright © 1993 American Medical Association. All Rights Reserved.
ISSN
0003-987X
eISSN
1538-3652
DOI
10.1001/archderm.1993.01680220058015
Publisher site
See Article on Publisher Site

Abstract

Abstract To the Editor.— Since Navaratnam and Hodgson1 described the first patient in 1973, there have been 24 reported cases of the cardiofaciocutaneous (CFC) syndrome, a genetic disorder of unknown cause with characteristic facies, cardiac defects, mental retardation, and cutaneous abnormalities. The cause of this disorder is presently unknown, and, although a genetic defect has been suggested, its exact pattern of inheritance is unclear. We describe a young boy with CFC syndrome who, in addition to the typical multisystem features, demonstrated café au lait lesions, acanthosis nigricans, and a syringocystadenoma papilliferum. Report of a Case.— Our patient, an 8-year-old boy born to unrelated Italian parents, was admitted to The Johns Hopkins Hospital, Baltimore, Md, for evaluation of severe mental retardation and self-injurious behavior. He had the characteristic facies of the CFC syndrome, including bitemporal constriction, hypertelorism, epicanthal folds, severe ptosis, a flattened nasal bridge, and low-set and posteriorly rotated ears References 1. Navaratnam AED, Hodgson GA. Ulerythema ophryogenes with mental retardation . Proc R Soc Med. 1973;66:233-234. 2. McKusick VA. Mendelian Inheritance in Man . 8th ed. Baltimore, Md: The Johns Hopkins University Press; 1988. 3. Fryer A, Holt PJ, Hughes HE. The cardiofaciocutaneous (CFC) syndrome and Noonan syndrome: are they the same? Am J Med Genet. 1991;38: 548-551.Crossref 4. Reynolds JF, Neri G, Herrmann JP, et al. New multiple congenital anomalies/mental retardation syndrome with cardiofaciocutaneous involvement: the CFC syndrome . Am J Med Genet. 1986;25:413-427.Crossref 5. Pierard G, Soyeyr-Broux M, Estrada JA, et al. Cutaneous manifestations of the cardiofacio-cutaneous syndrome . J Am Acad Dermatol. 1990;22:920-922.Crossref

Journal

Archives of DermatologyAmerican Medical Association

Published: Jan 1, 1993

References