[Van-der-Woude Syndrome]. / Van-der-Woude-Syndrom.
Klin Padiatr
; 220(1): 26-8, 2008.
Article
in De
| MEDLINE
| ID: mdl-18095255
ABSTRACT
We report on two families with different expression of a Van-der-Woude-Syndrome (VWS) and with proven mutation of the IRF6- gene. The Van-der-Woude syndrome is a rare disease, typically consisting of congenital pits of the lower lip in combination with cleft lip or cleft palate or both. The Van-der-Woude syndrome is an autosomal dominant syndrome with variable expression. The penetrance is between 0,89 and 0,99. It is important to establish the correct diagnosis by careful investigation of patients with cleft lip or cleft palate and their parents. Genetic counselling is recommended in such cases.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Abnormalities, Multiple
/
Cleft Lip
/
Cleft Palate
/
Lip
Type of study:
Diagnostic_studies
Limits:
Adolescent
/
Female
/
Humans
/
Infant
/
Newborn
Language:
De
Journal:
Klin Padiatr
Year:
2008
Document type:
Article
Affiliation country: