Distribution of associated component abnormalities in cases with unclassified multiple ("syndromic" ) anota/microtia

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3 Citations (Scopus)


Objective: To evaluate cases with unclassified multiple congenital abnormalities (CAs) including anotia/microtia (UMAM) in order to reveal the characteristic pattern of associated other component CAs and to attempt the so-called " registry diagnosis" on the pattern of associated CAs and to stimulate the establishment of an international registry of cases with UMAM. Method: The large population-based dataset of the Hungarian Congenital Abnormality Registry, 1980-1996, but component CAs of UMAM were based on medical records. Results: Finally 156 cases with UMAM were analyzed according to the number of 2-9 component CAs. There was a higher rate of bilateral anotia/microtia and anotia in UMAM cases parallel with the number of component CAs. Of 156 cases, 48 (30.8%) had registry diagnosis. The distribution of most component CAs is not random in UMAM cases, however, most CA-syndromes including anotia/microtia have not been delineated. Conclusions: The evaluation of available dataset of cases with UMAM may help the identification of recognizable CA-syndromes and the delineation of new syndromes/associations with better prognosis and recurrence risk estimation, in addition to a better chance for their prevention.

Original languageEnglish
Pages (from-to)639-647
Number of pages9
JournalInternational Journal of Pediatric Otorhinolaryngology
Issue number5
Publication statusPublished - May 1 2011


  • Anotia
  • Delineation of syndromes/associations
  • Microtia
  • Multiple congenital abnormalities
  • Registry diagnosis
  • Unclassified multiple congenital abnormalities

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Otorhinolaryngology

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