Axenfeld-Rieger malformation and distinctive facial features: Clues to a recognizable 6p25 microdeletion syndrome

Kenneth Maclean*, James Smith, Luke St. Heaps, Nicole Chia, Rebecca Williams, Gregory B. Peters, Ella Onikul, Tim McCrossin, Ordan J. Lehmann, Lesley C. Adès

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

61 Citations (Scopus)

Abstract

Deletion of distal 6p is associated with a distinctive clinical phenotype including Axenfeld-Rieger malformation, hearing loss, congenital heart disease, dental anomalies, developmental delay, and a characteristic facial appearance. We report the case of a child where recognition of the specific ocular and facial phenotype, led to identification of a 6p microdeletion arising from a de novo 6:18 translocation. Detailed analysis confirmed deletion of the FOXC1 forkhead gene cluster at 6p25. CNS anomalies included hydrocephalus and hypoplasia of the cerebellum, brainstem, and corpus callosum with mild to moderate developmental delay. Unlike previous reports, hearing was normal.

Original languageEnglish
Pages (from-to)381-385
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume132 A
Issue number4
DOIs
Publication statusPublished - 1 Feb 2005
Externally publishedYes

Keywords

  • 6p25 deletion
  • Axenfeld-Rieger syndrome
  • Cerebellar hypoplasia
  • FOXC1
  • Pulmonary stenosis

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