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The penetrance and variable expression of the Van der Woude syndrome: implications for genetic counseling.
Cleft Palate J. 1980 Jan; 17(1):52-7.CP

Abstract

The presence of congenital fistulae in the lower lip in combination with cleft lip, cleft palate, or both is diagnostic of the Van der Woude syndrome. This autosomal dominant syndrome had been reported to have a penetrance of 80% with variable expression. An analysis of eleven families with 67 affected individuals showed variable expression of clefting and lower lip pits. However, penetrance was found to be close to 100%. An approach to counseling advocates advising a 50% chance of inheriting the gene for Van der Woude syndrome.

Authors

Shprintzen RJ
No affiliation info available
Goldberg RB
No affiliation info available
Sidoti EJ
No affiliation info available

MeSH

Cleft LipCleft PalateFemaleFistulaGenetic CounselingGenotypeHumansLip DiseasesMalePhenotypeSyndrome

Pub Type(s)

Comparative Study
Journal Article

Language

eng

PubMed ID

6928118

Citation

Shprintzen, R J., et al. "The Penetrance and Variable Expression of the Van Der Woude Syndrome: Implications for Genetic Counseling." The Cleft Palate Journal, vol. 17, no. 1, 1980, pp. 52-7.
Shprintzen RJ, Goldberg RB, Sidoti EJ. The penetrance and variable expression of the Van der Woude syndrome: implications for genetic counseling. Cleft Palate J. 1980;17(1):52-7.
Shprintzen, R. J., Goldberg, R. B., & Sidoti, E. J. (1980). The penetrance and variable expression of the Van der Woude syndrome: implications for genetic counseling. The Cleft Palate Journal, 17(1), 52-7.
Shprintzen RJ, Goldberg RB, Sidoti EJ. The Penetrance and Variable Expression of the Van Der Woude Syndrome: Implications for Genetic Counseling. Cleft Palate J. 1980;17(1):52-7. PubMed PMID: 6928118.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - The penetrance and variable expression of the Van der Woude syndrome: implications for genetic counseling. AU - Shprintzen,R J, AU - Goldberg,R B, AU - Sidoti,E J, PY - 1980/1/1/pubmed PY - 1980/1/1/medline PY - 1980/1/1/entrez SP - 52 EP - 7 JF - The Cleft palate journal JO - Cleft Palate J VL - 17 IS - 1 N2 - The presence of congenital fistulae in the lower lip in combination with cleft lip, cleft palate, or both is diagnostic of the Van der Woude syndrome. This autosomal dominant syndrome had been reported to have a penetrance of 80% with variable expression. An analysis of eleven families with 67 affected individuals showed variable expression of clefting and lower lip pits. However, penetrance was found to be close to 100%. An approach to counseling advocates advising a 50% chance of inheriting the gene for Van der Woude syndrome. SN - 0009-8701 UR - https://www.unboundmedicine.com/medline/citation/6928118/The_penetrance_and_variable_expression_of_the_Van_der_Woude_syndrome:_implications_for_genetic_counseling_ L2 - http://www.diseaseinfosearch.org/result/7346 DB - PRIME DP - Unbound Medicine ER -