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

Natalio J. Izquierdo, Irene H. Maumenee, Elias I. Traboulsi

Research output: Contribution to journalArticle

Abstract

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 genetics
Volume14
Issue number2
DOIs
StatePublished - Jan 1 1993

Keywords

  • 18q-syndrome
  • 18q23 deletion
  • Anterior segment malformations
  • De Grouchy syndrome
  • Microphthalmia
  • Myopia

ASJC Scopus subject areas

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

Fingerprint Dive into the research topics of 'Anterior segment malformations in 18q-(de grouchy) syndrome'. Together they form a unique fingerprint.

  • Cite this

    Izquierdo, N. J., Maumenee, I. H., & Traboulsi, E. I. (1993). Anterior segment malformations in 18q-(de grouchy) syndrome. Ophthalmic genetics, 14(2), 91-94. https://doi.org/10.3109/13816819309042909