Acro-renal-ocular syndrome: Expansion of the phenotype

Encarna Guillén-Navarro, Robert Wallerstein, Elsa Reich, Laura Zajac, Harry Ostrer

Research output: Contribution to journalArticle

5 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)243-248
Number of pages6
JournalClinical Dysmorphology
Volume7
Issue number4
DOIs
StatePublished - 1998
Externally publishedYes

Keywords

  • Acro-renal-ocular syndrome
  • Autosomal dominant inheritance
  • CNS malformations
  • Ocular anomalies
  • Radial defects
  • Renal defects
  • Upper limb abnormalities

ASJC Scopus subject areas

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

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