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

Publication ,  Journal Article
Young, TL; Ziylan, S; Schaffer, DB
Published in: J Pediatr Ophthalmol Strabismus
1993

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.

Duke Scholars

Published In

J Pediatr Ophthalmol Strabismus

DOI

ISSN

0191-3913

Publication Date

1993

Volume

30

Issue

1

Start / End Page

48 / 52

Location

United States

Related Subject Headings

  • Visual Acuity
  • Vision Disorders
  • Syndrome
  • Strabismus
  • Ophthalmology & Optometry
  • Nystagmus, Pathologic
  • Male
  • Intellectual Disability
  • Infant
  • Humans
 

Citation

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ICMJE
MLA
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Young, T. L., Ziylan, S., & Schaffer, D. B. (1993). The ophthalmologic manifestations of the cardio-facio-cutaneous syndrome. J Pediatr Ophthalmol Strabismus, 30(1), 48–52. https://doi.org/10.3928/0191-3913-19930101-12
Young, T. L., S. Ziylan, and D. B. Schaffer. “The ophthalmologic manifestations of the cardio-facio-cutaneous syndrome.J Pediatr Ophthalmol Strabismus 30, no. 1 (1993): 48–52. https://doi.org/10.3928/0191-3913-19930101-12.
Young TL, Ziylan S, Schaffer DB. The ophthalmologic manifestations of the cardio-facio-cutaneous syndrome. J Pediatr Ophthalmol Strabismus. 1993;30(1):48–52.
Young, T. L., et al. “The ophthalmologic manifestations of the cardio-facio-cutaneous syndrome.J Pediatr Ophthalmol Strabismus, vol. 30, no. 1, 1993, pp. 48–52. Pubmed, doi:10.3928/0191-3913-19930101-12.
Young TL, Ziylan S, Schaffer DB. The ophthalmologic manifestations of the cardio-facio-cutaneous syndrome. J Pediatr Ophthalmol Strabismus. 1993;30(1):48–52.

Published In

J Pediatr Ophthalmol Strabismus

DOI

ISSN

0191-3913

Publication Date

1993

Volume

30

Issue

1

Start / End Page

48 / 52

Location

United States

Related Subject Headings

  • Visual Acuity
  • Vision Disorders
  • Syndrome
  • Strabismus
  • Ophthalmology & Optometry
  • Nystagmus, Pathologic
  • Male
  • Intellectual Disability
  • Infant
  • Humans