Lower Lip Pits: Van der Woude or Kabuki Syndrome?

被引：3

作者：

David-Paloyo, Ferri P. ^{[1
]}

Yang, Xuecai ^{[2
]}

Lin, Ju-Li ^{[3
]}

Wong, Fen-Hwa ^{[4
,5
]}

Wu-Chou, Yah-Huei ^{[6
,7
]}

Lo, Lun-Jou ^{[8
]}

机构：

[1] Manila Doctors Hosp, Dept Surg, Sect Plast & Reconstruct Surg, Manila, Philippines

[2] Qingdao Univ, Affiliated Hosp, Coll Med, Dept Oral & Maxillofacial Surg, Qingdao 266071, Shandong, Peoples R China

[3] Chang Gung Univ, Chang Gung Children Hosp, Dept Pediat, Div Pediat Genet, Taoyuan, Taiwan

[4] Natl Yang Ming Univ, Dept Life Sci, Taipei 112, Taiwan

[5] Natl Yang Ming Univ, Inst Genome Sci, Taipei 112, Taiwan

[6] Chang Gung Univ, Chang Gung Mem Hosp, Chang Gung Craniofacial Res Ctr, Dept Med Res, Taoyuan, Taiwan

[7] Chang Gung Univ, Grad Inst Clin Med Sci, Taoyuan, Taiwan

[8] Chang Gung Univ, Chang Gung Mem Hosp, Chang Gung Craniofacial Res Ctr, Dept Plast & Reconstruct Surg, Taoyuan, Taiwan

来源：

CLEFT PALATE-CRANIOFACIAL JOURNAL | 2014年 / 51卷 / 06期

关键词：

Kabuki syndrome; lower lip pits; Van der Woude syndrome; MAKE-UP-SYNDROME; NIIKAWA-KUROKI SYNDROME; ANORECTAL ANOMALIES; CLEFT-PALATE; SPECTRUM; MLL2; MICRODELETION; DELINEATION; MUTATIONS; PHENOTYPE;

D O I：

10.1597/12-258

中图分类号：

R78 [口腔科学];

学科分类号：

1003 ;

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.

引用

页码：729 / 734

页数：6

共 40 条

[1]

Abdel-Salam GMH, 2008, GENET COUNSEL, V19, P309

[2] Kabuki syndrome: a review [J].

Adam, MP ;

Hudgins, L .

CLINICAL GENETICS, 2005, 67 (03) :209-219

[3]

Adam MP, GeneReviews

[4] Further delineation of Kabuki syndrome in 48 well-defined new individuals [J].

Armstrong, L ;

El Moneim, AA ;

Aleck, K ;

Aughton, DJ ;

Baumann, C ;

Braddock, SR ;

Gillessen-Kaesbach, G ;

Graham, JM ;

Grebe, TA ;

Gripp, KW ;

Hall, BD ;

Hennekam, R ;

Hunter, A ;

Keppler-Noreuil, K ;

Lacombe, D ;

Lin, AE ;

Ming, JE ;

Kokitsu-Nakata, NM ;

Nikkel, SM ;

Philip, N ;

Raas-Rothschild, A ;

Sommer, A ;

Verloes, A ;

Walter, C ;

Wieczorek, D ;

Williams, MS ;

Zackai, E ;

Allanson, JE .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2005, 132A (03) :265-272

[5]

Bentz ML, 1998, PEDIAT PLASTIC SURG, P28

[6]

Berkowitz S, 2006, CLEFT LIP PALATE DIA, P201

[7]

Bork K, 1996, DIS ORAL MUCOSA LIPS, P249

[8]

BURKE LW, 1995, CLEFT PALATE-CRAN J, V32, P77, DOI 10.1597/1545-1569(1995)032<0077:KSURPI>2.3.CO

[9]

[10]

Durda KM, GENEREVIEWS

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