Laryngeal and tracheal anomalies in an infant with oral-facial-digital syndrome type VI (Váradi-Papp): report of a transitional type

Pediatr Radiol. 2008 Sep;38(9):994-8. doi: 10.1007/s00247-008-0877-y. Epub 2008 May 14.

Abstract

The oral-facial-digital syndromes (OFDS) comprise a group of disorders involving malformations of the mouth, face, and digits. There are 13 subtypes of the OFDS, and much overlap exists among OFDS patients. Distinct syndromes such as Joubert and Pallister-Hall display many of the same features. This report describes an infant with abnormalities including a hypoplastic/absent cerebellar vermis and forked third metacarpals, consistent with a diagnosis of OFDS type VI (Váradi-Papp). The girl's abnormalities also included malformations of the larynx and trachea, findings never before described in type VI but described in other OFDS subtypes and similar syndromes. Our patient represents a transitional OFDS type, further supporting evidence of a common molecular pathway among these disorders. This report highlights the importance of the radiologist's role in diagnosis.

Publication types

  • Case Reports

MeSH terms

  • Female
  • Humans
  • Infant, Newborn
  • Larynx / abnormalities*
  • Magnetic Resonance Imaging*
  • Orofaciodigital Syndromes / diagnosis*
  • Trachea / abnormalities*