Anterior segment malformations in 18q-(de Grouchy) syndrome

N. J. Izquierdo, I. H. Maumenee, E. I. Traboulsi

Research output: Contribution to journalArticlepeer-review


The authors examined two patients with deletions of the terminal end of the long arm of chromosome 18. The ocular findings in one patient with 46, XX, del 18 (q21) consisted of hypertelorism, epicanthus, strabismus, myopia, microphthalmia, microcornea, corneal opacities, iris hypoplasia with full thickness defects, corectopia and large peripapillary staphylomata. The second patient with 46, XX, del (18) (pter → q21.2 :: q22 → qter),inv (21) (q21 → p12 :: q21 → qter) only had epicanthus, strabismus, myopia and peripapillary crescents. Based on the findings in these two patients and on a review of previously reported patients with del 18 qter it appears that the loss of band 18q23 may be responsible for malformations of the anterior segment in the 18q-syndrome.

Original languageEnglish (US)
Pages (from-to)91-94
Number of pages4
JournalOphthalmic Paediatrics and Genetics
Issue number2
StatePublished - 1993


  • 18q-syndrome
  • 18q23 deletion
  • Anterior segment maiformations
  • De grouchy syndrome
  • Microphthalmia
  • Myopia

ASJC Scopus subject areas

  • Genetics(clinical)
  • Ophthalmology
  • Pediatrics, Perinatology, and Child Health


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