Affiliations 

  • 1 The Opthalmology Unit, Universiti Malaysia Sarawak, (UNIMAS), Lot 77, Seksyen 22, Kuching Town Land District, Jalan Tun Ahmad Zaidi Adruce, 93150 Kuching, Sarawak
  • 2 Genetic Laboratory, National Population and Family Development Board, LPPKN Building, Jalan Raja Laut, 50350 Kuala Lumpur
  • 3 Pediatric Department, Sarawak General Hospital, Kuching, Sarawak
Med J Malaysia, 2007 Mar;62(1):74-5.
PMID: 17682579

Abstract

A 3-year-old girl with facial dysmorphic features suggestive of Cornelia de Lange syndrome was seen in the ophthalmology unit for a right leukocoria. The leukocoria was found to be caused by a large retinoblastoma and the right eye was enucleated. Chromosomal analysis revealed partial chromosome 13q deletion involving band 14 which is associated with a high risk of retinoblastoma. This case shows that patient with chromosome 13q deletion syndrome cannot be diagnosed based on dysmorphic features only. Chromosomal analysis is warranted in all infants with facial dysmorphism suggestive of Cornelia de Lange syndrome so that those with chromosome 13q deletion can be referred early for early detection of retinoblastoma.

* Title and MeSH Headings from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.