Van der Woude syndrome: Clinical presentation in 64 patients

被引:10
作者
Huang, Jung-Ju
Hou, Jia-Woei
Tan, Ying-Chien
Chen, Kuo-Ting
Lo, Lun-Jou
Chen, Yu-Ray
机构
[1] Chang Gung Univ, Chang Gung Mem Hosp, Cranofacial Ctr, Dept Plast & Reconstruct Surg, Tao Yuan 333, Taiwan
[2] Chang Gung Univ, Chang Gung Mem Hosp, Dept Pediat, Tao Yuan, Taiwan
关键词
cleft; cleft lip; cleft palate; Van der Woude syndrome;
D O I
10.1597/06-094.1
中图分类号
R78 [口腔科学];
学科分类号
1003 ;
摘要
Objective: Van der Woude syndrome, characterized by lip pits and cleft lip/ palate, presents with variable expressions. This retrospective study was designed to obtain a better understanding of its clinical pattern in Taiwanese patients. Materials and Methods: Of 13,147 cleft patients treated at the Chang Gung Craniofacial Center from 1976 to 2004, there were 64 with Van der Woude syndrome. Clinical expressions and family histories were collected and analyzed. Results: The male to female ratio was 1:1. The majority had complete cleft types. Severe cleft was found among the patients, with 52% having bilateral cleft lip and palate, 31% having unilateral cleft lip and palate, and 17% having isolated cleft palate. A positive family history was found in 53.1% of the patients. The size, shape, location, and depth of the pits varied among patients. Conclusion: Clinical presentations did not always parallel those reported in the literatures. These differences warrant further investigation.
引用
收藏
页码:649 / 652
页数:4
相关论文
共 16 条
[1]  
BURDICK AB, 1985, J CRAN GENET DEV BIO, V5, P181
[2]  
BURDICK AB, 1986, J CRANIOFAC GENET DE, V12, P99
[3]  
CERVENKA J, 1967, AM J HUM GENET, V19, P416
[4]  
Fogh-Anderson P., 1961, CONGENIT ANOM, P123
[5]   SYNDROMES OF FACIAL CLEFTING [J].
GORLIN, RJ ;
CERVENKA, J .
SCANDINAVIAN JOURNAL OF PLASTIC AND RECONSTRUCTIVE SURGERY AND HAND SURGERY, 1974, 8 (1-2) :13-25
[6]   THE VANDERWOUDE SYNDROME IN A LARGE KINDRED - VARIABILITY, PENETRANCE, GENETIC RISKS [J].
JANKU, P ;
ROBINOW, M ;
KELLY, T ;
BRALLEY, R ;
BAYNES, A ;
EDGERTON, MT .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1980, 5 (02) :117-123
[7]   Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes [J].
Kondo, S ;
Schutte, BC ;
Richardson, RJ ;
Bjork, BC ;
Knight, AS ;
Watanabe, Y ;
Howard, E ;
de Lima, RLLF ;
Daack-Hirsch, S ;
Sander, A ;
McDonald-McGinn, DM ;
Zackai, EH ;
Lammer, EJ ;
Aylsworth, AS ;
Ardinger, HH ;
Lidral, AC ;
Pober, BR ;
Moreno, L ;
Arcos-Burgos, M ;
Valencia, C ;
Houdayer, C ;
Bahuau, M ;
Moretti-Ferreira, D ;
Richieri-Costa, A ;
Dixon, MJ ;
Murray, JC .
NATURE GENETICS, 2002, 32 (02) :285-289
[8]  
Onofre MA, 1997, CLEFT PALATE-CRAN J, V34, P261, DOI 10.1597/1545-1569(1997)034<0261:RBLLFA>2.3.CO
[9]  
2
[10]   LOWER LIP SINUSES .1. EPIDEMIOLOGY, MICROFORMS AND TRANSVERSE SULCI [J].
RINTALA, AE ;
RANTA, R .
BRITISH JOURNAL OF PLASTIC SURGERY, 1981, 34 (01) :26-30