Lower Lip Pits: Van der Woude or Kabuki Syndrome?-Reference-Cited by-同舟云学术

Lower Lip Pits: Van der Woude or Kabuki Syndrome?

Published:2014-11 Issue:6 Volume:51 Page:729-734
ISSN:1055-6656
Container-title:The Cleft Palate-Craniofacial Journal
language:en
Short-container-title:The Cleft Palate-Craniofacial Journal

Author:

David-Paloyo Ferri P.¹,Yang Xuecai²,Lin Ju-Li³,Wong Fen-Hwa⁴,Wu-Chou Yah-Huei⁵,Lo Lun-Jou⁶

Affiliation:

1. Section of Plastic and Reconstructive Surgery, Department of Surgery, Manila Doctors Hospital, Manila, Philippines.

2. Department of Oral and Maxillofacial Surgery, Affiliated Hospital of Medical College, Qingdao University, Qingdao, Shandong, China.

3. Division of Pediatric Genetics, Department of Pediatrics, Chang Gung Children Hospital, Chang Gung University, Taoyuan, Taiwan.

4. Department of Life Sciences and Institute of Genome Sciences, National Yang-Ming University, Taipei, Taiwan.

5. Department of Medical Research, Chang Gung Craniofacial Research Center, Chang Gung Memorial Hospital; Graduate Institute of Clinical Medical Sciences, Chang Gung University, Taoyuan, Taiwan.

6. Department of Plastic and Reconstructive Surgery, Chang Gung Craniofacial Research Center, Chang Gung Memorial Hospital, Chang Gung University, Taoyuan, Taiwan.

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.

Publisher

SAGE Publications

Subject

Otorhinolaryngology,Oral Surgery

Link

http://journals.sagepub.com/doi/pdf/10.1597/12-258

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