Oculo-auriculo-vertebral spectrum and the CHARGE association: Clinical evidence for a common pathogenetic mechanism

T. D. Van Meter, D. D. Weaver

Research output: Contribution to journalArticle

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Abstract

We describe two infants with features of both oculo-auriculo-vertebral spectrum (OAVS) and the CHARGE association (CA). Both patients are more severely affected than the typical patient with the OAVS. Each has facial asymmetry, mandibular hypoplasia, ear abnormalities, hearing impairment, microphthalmia, heart defects, and developmental delay. They also have features that are not characteristic of either OAVS or CA including torticollis, plagiocephaly, and heminostril. Based on the findings of these patients and other reported in the literature, there appears to be a significant overlap of features between OAVS and Ca, and we suggest that these conditions in fact may be produced by the same pathogenetic mechanism. One such mechanism to explain the overlap of these disorders is that both conditions are part of the axial mesodermal spectrum, and represent a dysblastogenetic process. This mechanism may also explain the presence of some of the additional features not normally seen in OAVs and CA but seen in these two infants.

Original languageEnglish (US)
Pages (from-to)187-196
Number of pages10
JournalClinical Dysmorphology
Volume5
Issue number3
StatePublished - Aug 23 1996

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Keywords

  • asymmetry
  • axial mesodermal dysplasia spectrum
  • birth defects
  • CHARGE association
  • developmental delay
  • heminostril
  • Oculo-auriculo-vertebral spectrum
  • plagiocephaly
  • torticollis

ASJC Scopus subject areas

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

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