A new syndrome of optic nerve colobomas and renal abnormalities associated with arthrogryposis multiplex

L. I. Al-Gazali, M. Bakir, Z. M. Hamid, D. K. Nair, D. Haas, I. Amirlak, A. Rushdi

Research output: Contribution to journalArticlepeer-review

3 Citations (Scopus)

Abstract

Renal-coloboma syndrome is a developmental disorder involving optic nerve colobomas and renal hypoplasia/insufficiency, which exhibits autosomal dominant inheritance and a highly variable phenotype (OMIM:120330). Mutation in the PAX2 gene was found to result in the renal-coloboma phenotype. We report on an Arab family with autosomal dominant inheritance of a syndrome characterized by a variable combination of optic nerve colobomas, renal abnormalities, vesicoureteral reflux, lax joints and arthrogryposis multiplex. Apart from the arthrogryposis multiplex which has not been described in the renal-coloboma syndrome, the features of the syndrome in this family are very similar to the renal-coloboma syndrome. However sequencing of all 12 axons of PAX2 gene revealed no mutation in this family. The disorder in this family is likely to represent a new syndrome with features overlapping with the renal-coloboma syndrome. (C) 2000 Lippincott Williams and Wilkins.

Original languageEnglish
Pages (from-to)183-188
Number of pages6
JournalClinical Dysmorphology
Volume9
Issue number3
DOIs
Publication statusPublished - 2000

Keywords

  • Arthrogryposis multiplex
  • Autosomal dominant inheritance
  • Lax joints
  • PAX2
  • Renal-coloboma syndrome
  • Vesicoureteral reflux

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Anatomy
  • Pathology and Forensic Medicine
  • Genetics(clinical)

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