Get access

Oculoauriculofrontonasal syndrome: Case series revealing new bony nasal anomalies in an old syndrome

Authors

  • Kelly N. Evans,

    Corresponding author
    1. Seattle Children's Craniofacial Center, Seattle, Washington
    • Department of Pediatrics, University of Washington, Seattle, Washington
    Search for more papers by this author
  • Joseph S. Gruss,

    1. Seattle Children's Craniofacial Center, Seattle, Washington
    2. Department of Plastic Surgery, University of Washington, Seattle, Washington
    Search for more papers by this author
  • Paritosh C. Khanna,

    1. Department of Radiology, University of California San Diego, San Diego, California
    Search for more papers by this author
  • Michael L. Cunningham,

    1. Department of Pediatrics, University of Washington, Seattle, Washington
    2. Seattle Children's Craniofacial Center, Seattle, Washington
    Search for more papers by this author
  • Timothy C. Cox,

    1. Department of Pediatrics, University of Washington, Seattle, Washington
    2. Seattle Children's Craniofacial Center, Seattle, Washington
    3. Department of Anatomy and Developmental Biology, Monash University, Melbourne, Australia
    Search for more papers by this author
  • Anne V. Hing

    1. Department of Pediatrics, University of Washington, Seattle, Washington
    2. Seattle Children's Craniofacial Center, Seattle, Washington
    Search for more papers by this author

Correspondence to:

Kelly N. Evans, M.D., Seattle Children's Craniofacial Center, 4800 Sandpoint Way NE, M/S W-7847, Seattle, WA 98105.

E-mail: kelly.evans@seattlechildrens.org

Abstract

Frontonasal Dysplasia (FND) and Oculo-auriculo-vertebral spectrum (OAVS) are two well-recognized clinical entities. With features of both FND and OAVS, the term oculoauriculofrontonasal syndrome (OAFNS) was coined in 1981. The OAFNS phenotype combines elements of abnormal morphogenesis of the frontonasal and maxillary process (derived from forebrain neural crest) with abnormal development of the first and second branchial arches (derived from hindbrain neural crest). We present a case series of 33 children with OAFNS ascertained from a comprehensive review of the literature and report an additional retrospective series of eight patients displaying features consistent with OAFNS. Notably, in a subset of our cases, we have observed abnormalities in nasal ossification and bony structures of the maxilla that have not previously described in OAFNS and are not seen in either FND or OAVS. We present the phenotype and novel naso-maxillary findings and explore potential etiologic and developmental pathways for OAFNS. We highlight the differences in phenotypic characteristics of OAFNS compared to OAVS and FND. These observations support the classification of OAFNS as a discrete syndrome. Further phenotypic refinements of OAFNS are needed to understand pathogenesis of this syndrome and the newly described nasal malformation may help identify the etiology. © 2013 Wiley Periodicals, Inc.

Ancillary