Acro-renal-ocular syndrome: expansion of the phenotype

Clin Dysmorphol. 1998 Oct;7(4):243-8. doi: 10.1097/00019605-199810000-00002.


We report the sixth described family with acro-renal-ocular syndrome in a boy and more mildy in his mother. Severe upper limb deficiency, dysplastic kidneys, and strabismus are noted in this child in addition to developmental delay, dysplastic corpus callosum, and incomplete myelination. Developmental central nervous system (CNS) malformations have not been described in this syndrome previously and may represent an expansion of the phenotype.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adolescent
  • Agenesis of Corpus Callosum
  • Arm / abnormalities*
  • Child, Preschool
  • Female
  • Genes, Dominant
  • Humans
  • Kidney / abnormalities*
  • Male
  • Phenotype
  • Strabismus / genetics*
  • Syndrome