[Van der Woude syndrome].
The familial occurrence of lower lip pits (fistulae, sinuses) with or without the cheilo-gnathouranoschisis complex (cleft lip and/or cleft palate) was first described by A. Van der Woude in 1954. The lip pits syndrome is inherited as an autosomal dominant trait with high penetrance (80%), but its clinical expression is variable. Sometimes there may be microforms with only conical elevation and/or surface openings without any deeper sinuses at the typical sites and without cleft lip/palate. We examined 8 members of an Italian family and we observed one member with lip pits and submucous cleft palate and 4 members with only lip pits. Three of these affected members had congenital absence of second premolars too. The presentation, mode of inheritance, aetiology and genetic significance of lip pits syndrome are reviewed. In our opinion this is the first Italian report of the Van der Woude syndrome.
Calzavara Pinton
P G
PG
Gavazzoni
R
R
Carlino
A
A
Leali
C
C
D000015:Abnormalities, Multiple; D000293:Adolescent; D000848:Anodontia / Q000150:complications*; D002972:Cleft Palate / Q000150:complications*; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D008046:Lip / Q000002:abnormalities*; D010375:Pedigree; D013577:Syndrome; D014609:Uvula / Q000002:abnormalities*
Sindrome di Van der Woude.