The ophthalmologic manifestations of the cardio-facio-cutaneous syndrome.

Journal Article (Journal Article;Review)

The cardio-facio-cutaneous (CFC) syndrome is an uncommon multiple congenital anomalies/mental retardation syndrome whose major manifestations are congenital heart defects, relative macrocephaly, stunted growth, ectodermal dysplasia, characteristic facial appearance, and psychomotor developmental delay. All described cases were sporadic and cytogenetically normal. We report three additional patients with this diagnosis. All three patients developed strabismus, requiring extraocular muscle surgery. Two of our patients also had nystagmus. Combining the 18 previously reported cases with our additional 3, 9 of 21 had strabismus, 10 of 21 had ptosis, and 6 of 21 had nystagmus. Ophthalmic craniofacial abnormalities of hypoplastic supraorbital ridges, prominent epicanthal folds, and antimongoloid slant of the palpebral fissures were also common features contributing to the characteristic facies described for this syndrome. The ophthalmologist could aid in the diagnosis and treatment of these patients because of the prominent ophthalmologic symptomatology of the CFC syndrome.

Full Text

Duke Authors

Cited Authors

  • Young, TL; Ziylan, S; Schaffer, DB

Published Date

  • 1993

Published In

Volume / Issue

  • 30 / 1

Start / End Page

  • 48 - 52

PubMed ID

  • 8455127

International Standard Serial Number (ISSN)

  • 0191-3913

Digital Object Identifier (DOI)

  • 10.3928/0191-3913-19930101-12


  • eng

Conference Location

  • United States