Yeungnam Univ J Med.  2019 May;36(2):152-154. 10.12701/yujm.2019.00066.

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

• Kim WJ

• KMID: 2449329
• DOI: http://doi.org/10.12701/yujm.2019.00066

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.

Keyword

Cornelia de Lange Syndrome; Strabismus; Ptosis; Surgery

MeSH Terms

De Lange Syndrome*
Ear
Esotropia*
Extremities
Eyebrows
Eyelashes
Humans
Intellectual Disability
Korea
Myopia
Nasolacrimal Duct
Nose
Strabismus
Tooth

Figure

• 

  Fig. 1. Image of the patient with Cornelia de Lange syndrome demonstrating long eyelashes and arched eyebrows that meet in the middle (synophrys, A), small and upturned nose (B), and small and widely spaced teeth (C).

• 

  Fig. 2. Preoperative image of the patient demonstrating esotropia and ptosis covering the visual axis of the right eye (A). Four months after surgical treatment, the patient had stable ocular alignment with good eyelid position (B).

Reference

1. Levin AV, Seidman DJ, Nelson LB, Jackson LG. Ophthalmologic findings in the Cornelia de Lange syndrome. J Pediatr Ophthalmol Strabismus. 1990; 27:94–102.

2. Boyle MI, Jespersgaard C, Brøndum-Nielsen K, Bisgaard AM, Tümer Z. Cornelia de Lange syndrome. Clin Genet. 2015; 88:1–12.

3. Kline AD, Krantz ID, Sommer A, Kliewer M, Jackson LG, Fitz-Patrick DR, et al. Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance. Am J Med Genet A. 2007; 143A:1287–96.

4. Kim IT, Park JW, Choi WC. A Korean case of Cornelia de Lange syndrome. Korean J Ophthalmol. 2005; 19:153–5.

5. Nallasamy S, Kherani F, Yaeger D, McCallum J, Kaur M, Devoto M, et al. Ophthalmologic findings in Cornelia de Lange syndrome: a genotype-phenotype correlation study. Arch Ophthalmol. 2006; 124:552–7.

6. Park KH, Lee ST, Ki CS, Byun SY. Cornelia de Lange Syndrome with NIPBL gene mutation: a case report. J Korean Med Sci. 2010; 25:1821–3.

7. Wygnanski-Jaffe T, Shin J, Perruzza E, Abdolell M, Jackson LG, Levin AV. Ophthalmologic findings in the Cornelia de Lange Syndrome. J AAPOS. 2005; 9:407–15.

8. Stacey AW, Sparagna C, Borri M, Rizzo S, Hadjistilianou T. A 6-year-old boy with Cornelia de Lange syndrome and Coats disease: case report and review of the literature. J AAPOS. 2015; 19:474–8.