Características clínicas em sujeitos com síndrome de van der woude: uma revisão integrativa / Clinical characteristics in subjects with van der woude syndrome: an integrative review

Andréa Guedes Barreto Gonçales, Carolina Maia Silva, Maria Carolina de Moraes Pereira, Lucimara Teixeira das Neves

Resumo


A síndrome de Van der Woude (SVW) é a forma sindrômica mais comumente descrita em pacientes com fissuras labiopalatinas. Essa anomalia com padrão de herança autossômico dominante apresenta como principais características fenotípicas as fístulas congênitas no lábio inferior, fissura de lábio e/ou palato e hipodontia. Apesar dessas características serem bem fundamentadas no diagnóstico de sujeitos com SVW, pode ocorrer uma gama de variações fenotípicas dessas características, o que dificulta o diagnóstico clínico desses sujeitos. Por essa razão, esse estudo se propôs a realizar essa revisão de literatura integrativa, analisando os artigos publicados que apresentam as descrições dos fenótipos clínicos. Para tal, foram realizadas buscas em bases de dados internacionais, por meio das quais foram selecionados 9 artigos relacionados com o tema. A fístula labial e a fissura de lábio e/ou palato foram relatadas em todos os estudos, porém em alguns estudos, essas anomalias apresentaram formas atípicas. Já a hipodontia foi associada a SVW em 3 estudos. Na presente análise foi possível verificar que a SVW apresenta um amplo espectro de características variáveis, o que pode dificultar o diagnóstico final. A descrição das possibilidades de expressividade variável da síndrome pode contribuir para um diagnóstico mais preciso de sujeitos com SVW.

 

 


Palavras-chave


síndrome de Van der Woude; fenótipos clínicos; fístula labial congênita; fissura de lábio e/ou palato; hipodontia.

Texto completo:

PDF

Referências


ANGIERO, F. et al. Clinical, histomorphological and therapeutic features of the Van der Woude Syndrome: literature review and presentation of an unusual case. European Journal of Paediatric Dentistry: Official Journal of European Academy of Paediatric Dentistry, v. 19, n. 1, p. 70-73, 2018.

ČERVENKA, J.; GORLIN, R. J.; ANDERSON, V. E. The syndrome of pits of the lower lip and cleft lip and/or palate. Genetic considerations. American Journal of Human Genetics, v. 19, n. 3 Pt 2, p. 416, 1967.

HUANG, J. J. et al. Van der Woude syndrome: clinical presentation in 64 patients. Cleft Palate-Craniofacial Journal, v. 44, n. 6, p. 649-652, 2007.

JAMES, O. et al. Van der Woude syndrome: a review of 11 cases seen at the Lagos University Teaching Hospital. African Journal of Paediatric Surgery: AJPS, v. 11, n. 1, p. 52-55, 2014.

JANKU, P. et al. The van der Woude syndrome in a large kindred: variability, penetrance, genetic risks. American Journal of Medical Genetics, v. 5, n. 2, p. 117-123, 1980.

JOBLING, R. et al. Monozygotic twins with variable expression of Van der Woude syndrome. American Journal of Medical Genetics. Part A, v. 155, n. 8, p. 2008, 2011.

KANTAPUTRA, P. N. et al. Van der Woude syndrome with sensorineural hearing loss, large craniofacial sinuses, dental pulp stones, and minor limb anomalies: report of a four-generation Thai family. American Journal of Medical Genetics, v. 108, n. 4, p. 275-280, 2002.

KAYANO, S. et al. Novel IRF6 mutations in Japanese patients with Van der Woude syndrome: two missense mutations (R45Q and P396S) and a 17-kb deletion. Journal of Human Genetics, v. 48, n. 12, p. 622, 2003.

KONDO, S. et al. Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. Nature Genetics, v. 32, n. 2, p. 285, 2002.

LAN, A. K. et al. Van der Woude syndrome: dentofacial features and implications for clinical practice. Australian Dental Journal, v. 55, n. 1, p. 51-58, 2010.

LESLIE, E. J. et al. Comparative analysis of IRF6 variants in families with Van der Woude syndrome and popliteal pterygium syndrome using public whole-exome databases. Genetics in Medicine, v. 15, n. 5, p. 338, 2013.

LI, S. et al. Association between genotype and phenotype of virulence gene in Van der Woude syndrome families. Molecular Medicine Reports, v. 17, n. 1, p. 1241-1246, 2018.

MALIK, S.; WILCOX, E. R.; NAZ, S. Novel lip pit phenotypes and mutations of IRF6 in Van der Woude syndrome patients from Pakistan. Clinical Genetics, v. 85, n. 5, p. 487-491, 2014.

MARTELLI-JÚNIOR, H. et al. Clinical and genetic features of Van de Woude syndrome in two large families in Brazil. Cleft Palate-Craniofacial Journal, v. 44, n. 3, p. 239-243, 2007.

MUTAF, M.; SENSÖZ, O.; USTÜNER, E. T. The split-lip advancement technique (SLAT) for the treatment of congenital sinuses of the lower lip. Plastic and Reconstructive Surgery, v. 92, n. 4, p. 615-620, 1993.

OBEROI, S.; VARGERVIK, K. Hypoplasia and hypodontia in Van der Woude syndrome. The Cleft Palate-Craniofacial Journal, v. 42, n. 5, p. 459-466, 2005.

PEYRARD-JANVID, M. et al. Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm development. The American Journal of Human Genetics, v. 94, n. 1, p. 23-32, 2014.

RANTA, R.; RINTALA, A. E. Correlations between microforms of the Van der Woude syndrome and cleft palate. The Cleft Palate Journal, v. 20, n. 2, p. 158-162, 1983.

RINTALA, A. E.; RANTA, R. Lower lip sinuses: I. Epidemiology, microforms and transverse sulci. Journal of Plastic, Reconstructive & Aesthetic Surgery, v. 34, n. 1, p. 26-30, 1981.

SANDER, A.; SCHMELZLE, R.; MURRAY, J. Evidence for a microdeletion in 1q32–41 involving the gene responsible for Van der Woude syndrome. Human Molecular Genetics, v. 3, n. 4, p. 575-578, 1994.

SCHUTTE, B. C. et al. A preliminary gene map for the Van der Woude syndrome critical region derived from 900 kb of genomic sequence at 1q32–q41. Genome Research, v. 10, n. 1, p. 81-94, 2000.

SHPRINTZEN, R. J.; GOLDBERG, R. B.; SIDOTI, E. J. The penetrance and variable expression of the Van der Woude syndrome: implication for genetic counseling. The Cleft Palate Journal, v. 17, n. 1, p. 52-57, 1980.

VAN DER WOUDE, Anne. Fistula labii inferioris congenita and its association with cleft lip and palate. American Journal of Human Genetics, v. 6, n. 2, p. 244, 1954.


Apontamentos

  • Não há apontamentos.