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[Van der Woude syndrome].
G Ital Dermatol Venereol. 1989 Apr; 124(4):171-3.GI

Abstract

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.

Authors

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Pub Type(s)

Case Reports
English Abstract
Journal Article

Language

ita

PubMed ID

2807397

Citation

Calzavara Pinton, P G., et al. "[Van Der Woude Syndrome]." Giornale Italiano Di Dermatologia E Venereologia : Organo Ufficiale, Societa Italiana Di Dermatologia E Sifilografia, vol. 124, no. 4, 1989, pp. 171-3.
Calzavara Pinton PG, Gavazzoni R, Carlino A, et al. [Van der Woude syndrome]. G Ital Dermatol Venereol. 1989;124(4):171-3.
Calzavara Pinton, P. G., Gavazzoni, R., Carlino, A., & Leali, C. (1989). [Van der Woude syndrome]. Giornale Italiano Di Dermatologia E Venereologia : Organo Ufficiale, Societa Italiana Di Dermatologia E Sifilografia, 124(4), 171-3.
Calzavara Pinton PG, et al. [Van Der Woude Syndrome]. G Ital Dermatol Venereol. 1989;124(4):171-3. PubMed PMID: 2807397.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Van der Woude syndrome]. AU - Calzavara Pinton,P G, AU - Gavazzoni,R, AU - Carlino,A, AU - Leali,C, PY - 1989/4/1/pubmed PY - 1989/4/1/medline PY - 1989/4/1/entrez SP - 171 EP - 3 JF - Giornale italiano di dermatologia e venereologia : organo ufficiale, Societa italiana di dermatologia e sifilografia JO - G Ital Dermatol Venereol VL - 124 IS - 4 N2 - 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. SN - 0392-0488 UR - https://www.unboundmedicine.com/medline/citation/2807397/[Van_der_Woude_syndrome]_ L2 - http://www.diseaseinfosearch.org/result/7346 DB - PRIME DP - Unbound Medicine ER -