Lower lip pits: Van der Woude or Kabuki syndrome

Ferri P. David-Paloyo, Xuecai Yang, Ju Li Lin, Fen Hwa Wong, Yah Huei Wu-Chou, Lun Jou Lo*

*Corresponding author for this work

Research output: Contribution to journalJournal Article peer-review

3 Scopus citations

Abstract

Kabuki syndrome (KS) is a multiple congenital anomaly/mental retardation syndrome with characteristic facial features. Despite more than 350 documented cases and recent correlation of MLL2 mutations as a genetic cause, its full clinical spectrum is still being defined. This report describes two patients who were initially diagnosed with Van der Woude syndrome (VWS) based on the presence of lower lip pits. However, this finding can occur with KS, albeit infrequently. For patients with lower lip pits, a thorough evaluation should be made to distinguish between VWS and KS, as there are differences in long-term prognosis.

Original languageEnglish
Pages (from-to)729-734
Number of pages6
JournalThe Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
Volume51
Issue number6
DOIs
StatePublished - 01 11 2014

Bibliographical note

Publisher Copyright:
© Copyright 2014 American Cleft Palate-Craniofacial Association.

Keywords

  • Kabuki syndrome
  • Lower lip pits
  • Van der Woude syndrome

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