Van der Woude syndrome: clinical presentation in 64 patients.
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.


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.


CONCLUSIONS
Clinical presentations did not always parallel those reported in the literatures. These differences warrant further investigation.
Huang
Jung-Ju
JJ
Craniofacial Center, Department of Plastic and Reconstructive Surgery, Chang Gung Memorial Hospital, Chang Gung University, Taoyuan, Taiwan.
Hou
Jia-Woei
JW
Tan
Ying-Chien
YC
Chen
Kuo-Ting
KT
Lo
Lun-Jou
LJ
Chen
Yu-Ray
YR
D000015:Abnormalities, Multiple; D002971:Cleft Lip / Q000235:genetics / Q000473:pathology*; D002972:Cleft Palate / Q000235:genetics / Q000473:pathology*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D010375:Pedigree; D019683:Penetrance; D012189:Retrospective Studies; D012744:Sex Ratio; D013577:Syndrome; D013624:Taiwan