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

doi:10.1597/12-258

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^*

^*此作品的通信作者

Manila Doctors Hospital
Qingdao University
Chang Gung University
National Yang Ming Chiao Tung University

研究成果: 期刊稿件 › 文章 › 同行評審

3 引文斯高帕斯（Scopus）

摘要

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.

原文	英語
頁（從 - 到）	729-734
頁數	6
期刊	The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
卷	51
發行號	6
DOIs	https://doi.org/10.1597/12-258
出版狀態	已出版 - 01 11 2014

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© Copyright 2014 American Cleft Palate-Craniofacial Association.

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title = "Lower lip pits: Van der Woude or Kabuki syndrome",

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.",

keywords = "Kabuki syndrome, Lower lip pits, Van der Woude syndrome",

author = "David-Paloyo, \{Ferri P.\} and Xuecai Yang and Lin, \{Ju Li\} and Wong, \{Fen Hwa\} and Wu-Chou, \{Yah Huei\} and Lo, \{Lun Jou\}",

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AU - David-Paloyo, Ferri P.

AU - Yang, Xuecai

AU - Lin, Ju Li

AU - Wong, Fen Hwa

AU - Wu-Chou, Yah Huei

AU - Lo, Lun Jou

PY - 2014/11/1

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N2 - 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.

AB - 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.

KW - Kabuki syndrome

KW - Lower lip pits

KW - Van der Woude syndrome

UR - https://www.scopus.com/pages/publications/84908703490

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JO - The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

JF - The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

IS - 6

ER -

Lower lip pits: Van der Woude or Kabuki syndrome

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