The ophthalmologic manifestations of the cardio-facio-cutaneous syndrome.
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.
Young
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Division of Ophthalmology, Children's Hospital of Philadelphia, University of Pennsylvania.
Ziylan
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Schaffer
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D000015:Abnormalities, Multiple; D002648:Child; D002675:Child, Preschool; D004476:Ectodermal Dysplasia; D005145:Face / Q000002:abnormalities*; D005260:Female; D006330:Heart Defects, Congenital; D006801:Humans; D007223:Infant; D008607:Intellectual Disability; D008297:Male; D009759:Nystagmus, Pathologic / Q000175:diagnosis; D013285:Strabismus / Q000175:diagnosis / Q000601:surgery; D013577:Syndrome; D014786:Vision Disorders / Q000175:diagnosis*; D014792:Visual Acuity