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Surgical treatment of esotropia and unilateral ptosis in a patient with Cornelia de Lange syndrome

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초록

Cornelia de Lange syndrome (CdLS) is a rare multisystemic disorder that is characterized by mental retardation, prenatal and postnatal growth retardation, limb anomalies, and distinctive facial features, which include arched eyebrows that often meet in the middle (synophrys), long eyelashes, low-set ears, small and widely spaced teeth, and a small and upturned nose. Ophthalmic manifestations include long eyelashes, nasolacrimal duct obstruction, myopia, ptosis, and strabismus. There has been no report of surgical treatment for esotropia and unilateral ptosis in patients with CdLS in Korea. I report a patient with CdLS who underwent surgical treatment for esotropia and unilateral ptosis with a good surgical outcome.

Abstract

Cornelia de Lange syndrome (CdLS) is a rare multisystemic disorder that is characterized by mental retardation, prenatal and postnatal growth retardation, limb anomalies, and distinctive facial features, which include arched eyebrows that often meet in the middle (synophrys), long eyelashes, low-set ears, small and widely spaced teeth, and a small and upturned nose. Ophthalmic manifestations include long eyelashes, nasolacrimal duct obstruction, myopia, ptosis, and strabismus. There has been no report of surgical treatment for esotropia and unilateral ptosis in patients with CdLS in Korea. I report a patient with CdLS who underwent surgical treatment for esotropia and unilateral ptosis with a good surgical outcome.

참고문헌 (8)

  1. Levin AV, "Ophthalmologic findings in the Cornelia de Lange syndrome", J Pediatr Ophthalmol Strabismus, 27, pp.94~102 (1990)
  2. Boyle MI, "Cornelia de Lange syndrome", Clin Genet, 88, pp.1~12 (2015)
  3. Kline AD, "Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance", Am J Med Genet A, 143A, pp.1287~1296 (2007)
  4. Kim IT, "A Korean case of Cornelia de Lange syndrome", Korean J Ophthalmol, 19, pp.153~155 (2005)
  5. Nallasamy S, "Ophthalmologic findings in Cornelia de Lange syndrome: a genotype-phenotype correlation study", Arch Ophthalmol, 124, pp.552~557 (2006)
  6. 박경희, "Cornelia de Lange Syndrome with NIPBL Gene Mutation: A Case Report", Journal of Korean Medical Science, 25(12), pp.1821~1823 (2010), 대한의학회
  7. Wygnanski-Jaffe T, "Ophthalmologic findings in the Cornelia de Lange Syndrome", J AAPOS, 9, pp.407~415 (2005)
  8. Stacey AW, "A 6-year-old boy with Cornelia de Lange syndrome and Coats disease: case report and review of the literature", J AAPOS, 19, pp.474~478 (2015)

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