The Management of Cleft Lip and Palate in Four Siblings with Van Der Woude Syndrome in a Developing Country: A Case Report

Volume 12, Issue 2, Jurnal Plastik Rekonstruksi | Pages : 113-118

DOI: 10.14228/jprjournal.v12i2.26   Reader : 3 times PDF Download : 2 times

Abstract

Data Availability

References

  1. 1. Dissemond J, Haberer D, Franckson T, Hillen U. The Van der Woude syndrome: a case report and review of the literature. Journal of the European Academy of Dermatology and Venereology. 2004 Sep 2;18(5):611–3.
  2. 2. Lam A, David D, Townsend G, Anderson P. Van der Woude syndrome: dentofacial features and implications for clinical practice. Aust Dent J. 2010 Mar 5;55(1):51–8.
  3. 3. Peralta-Mamani M, Terrero-Pérez Á, Dalben G, Rubira CMF, Honório HM, Rubira-Bullen IF. Treatment of lower lip pits in Van der Woude syndrome: a systematic review. Int J Oral Maxillofac Surg. 2018 Apr;47(4):421–7.
  4. 4. VAN DER WOUDE A. Fistula labii inferioris congenita and its association with cleft lip and palate. Am J Hum Genet. 1954 Jun;6(2):244–56.
  5. 5. Rintala AE, Lahti AY, Gylling US. Congenital sinuses of the lower lip in connection with cleft lip and palate. Cleft Palate J. 1970 Jan;7:336–46.
  6. 6. Marazita ML, Murray JC, Lidral AC, Arcos-Burgos M, Cooper ME, Goldstein T, et al. Meta-Analysis of 13 Genome Scans Reveals Multiple Cleft Lip/Palate Genes with Novel Loci on 9q21 and 2q32-35. The American Journal of Human Genetics. 2004 Aug;75(2):161–73.
  7. 7. Estévez‐Arroyo B, Gómez‐Mendo I, Romero‐Maroto M, Solano‐Reina E, Iglesias‐Linares A. Craniofacial characteristics in Van der Woude syndrome. Oral Dis. 2023 May 22;29(4):1680–91.
  8. 8. Kondo S, Schutte BC, Richardson RJ, Bjork BC, Knight AS, Watanabe Y, et al. Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. Nat Genet. 2002 Oct 3;32(2):285–9.
  9. 9. Starink E, Hokken-Koelega ACS, Visser TJ, Baan J, Peeters RP, de Graaff LCG. Genetic analysis of IRF6, a gene involved in craniofacial midline formation, in relation to pituitary and facial morphology of patients with idiopathic growth hormone deficiency. Pituitary. 2017 Oct 7;20(5):499–508.
  10. 10. de Lima RLLF, Hoper SA, Ghassibe M, Cooper ME, Rorick NK, Kondo S, et al. Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome. Genetics in Medicine. 2009 Apr;11(4):241–7.
  11. 11. Peyrard-Janvid M, Leslie EJ, Kousa YA, Smith TL, Dunnwald M, Magnusson M, et al. Dominant Mutations in GRHL3 Cause Van der Woude Syndrome and Disrupt Oral Periderm Development. The American Journal of Human Genetics. 2014 Jan;94(1):23–32.
  12. 12. Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, et al. A method and server for predicting damaging missense mutations. Nat Methods. 2010 Apr;7(4):248–9.
  13. 13. Kircher M, Witten DM, Jain P, O’Roak BJ, Cooper GM, Shendure J. A general framework for estimating the relative pathogenicity of human genetic variants. Nat Genet. 2014 Mar 2;46(3):310–5.
  14. 14. Tehranchi A, Behnia H, Nadjmi N, Yassaee VR, Ravesh Z, Mina M. Multidisciplinary management of a patient with van der Woude syndrome: A case report. Int J Surg Case Rep. 2017;30:142–7.
  15. 15. Vallabhaneni K, Muktineni S, Avula SJ, Korikani A. A rare case of familal van der woude syndrome. International Journal of Pedodontic Rehabilitation. 2019;4(2):76.
  16. 16. Anggayanti NA, Sjamsudin E, Putri FA. Van der woude syndrome: A case report and review. Indonesia Journal of Biomedical Science. 2020 Dec 1;14(2):118–21.
  17. 17. Rizos M. Van der Woude syndrome: a review. Cardinal signs, epidemiology, associated features, differential diagnosis, expressivity, genetic counselling and treatment. The European Journal of Orthodontics. 2004 Feb 1;26(1):17–24.
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Keywords

  • Cleft Lip and Palate
  • Van der Woude Syndrome
  • Familial Genetic

Author Information

Mendy Hatibie Oley

Division of Plastic Reconstructive and Aesthetic Surgery, Department of Surgery, Sam Ratulangi University – Prof. Dr. R.D Kandou Hospital, Manado, Indonesia.

Email: mendy.hatibie@unsrat.ac.id

ORCID : https://orcid.org/0000-0003-2750-5917

Maximillian Christian Oley

Craniofacial and Cleft Center, Siloam Hospital Manado, Indonesia.

Email: max_oley@unsrat.ac.id

ORCID : https://orcid.org/0000-0001-8317-0790

Yudhaputra Setiadhi

Department of Surgery, Faculty of Medicine, Sam Ratulangi University, Manado, Indonesia.

Email: yudzsetiadhi@gmail.com

ORCID : https://orcid.org/0000-0002-8244-833X

Vania Sukarno

Craniofacial and Cleft Center, Siloam Hospital Manado, Indonesia.

Email: vaniasung03@gmail.com

ORCID : https://orcid.org/0000-0002-8244-833X

Deborah Florencia Gunawan

Department of Surgery, Faculty of Medicine, Sam Ratulangi University, Manado, Indonesia.

Email: deborahgunawan011@student.unsrat.ac.id

ORCID : https://orcid.org/0000-0003-2750-5917

Muhammad Faruk

Department of Surgery, Faculty of Medicine, Hasanuddin University, Makassar, Indonesia.

Email: muhammadfaruk@unhas.ac.id

ORCID : https://orcid.org/0000-0002-7079-4585

Article History

Submitted : 11 February 2025
Revised : 5 July 2025
Published : 29 September 2025

How to Cite This

Oley, M. H., Oley, M. C., Setiadhi, Y., Sukarno, V., Gunawan, D. F., & Faruk, M. (2025). The Management of Cleft Lip and Palate in Four Siblings with Van Der Woude Syndrome in a Developing Country: A Case Report . Jurnal Plastik Rekonstruksi, 12(2), 113–118. https://doi.org/10.14228/jprjournal.v12i2.26

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