alexa Interlink of Two Syndromes - Demarquay-van der Woude an
ISSN: 2376-032X

JBR Journal of Interdisciplinary Medicine and Dental Science
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Research Article

Interlink of Two Syndromes - Demarquay-van der Woude and Popliteal Pterygium in One Family Group

Su Yin Htun1, Kurt-W Büto*2, Hanlie Engelbrecht3 and Engela Honey4

1Department of Cranio Maxillofacial Surgery, University of Technology, Jamaica

2Department of Maxillofacial Surgery, University of Kwazulu-Natal, South Africa

3Department of Cranio Maxillofacial Surgery, University of Melbourne, Australia

4Department of Genetics, University of Pretoria, South Africa

Corresponding Author:
Kurt-W Bütow
Professor and Head of the Facial Cleft Deformity Clinic
University of Pretoria, Honorary Professor
University of Kwazulu-Natal, South Africa
P. O. Box 345, Wapadrand 0050, South Africa
Tel: +0027-12-8073065
Fax: 0027- 12- 8073064
E-mail: [email protected]

Received Date: January 08, 2016; Accepted Date: January 22, 2016; Published Date: February 01, 2016

Citation: Htun SY, Büto KW, Engelbrecht H, Honey E (2016) Interlink of Two Syndromes - Demarquay-van der Woude and Popliteal Pterygium in One Family Group. J Interdiscipl Med Dent Sci 4:188. doi:10.4172/2376-032X.1000188

Copyright: © 2016 Htun SY, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

 

Abstract

Background and Objective: Demarquay-van der Woude (DVWS) and Popliteal Pterygium (PPS) syndromes are distinct autosomal dominant conditions generally presenting with a cleft lip and/or cleft palate. Both syndromes are genetically associated with mutations of the gene coding for Interferon Regulatory Factor 6 (IRF6) and grouped together as the IRF6-Related Disorder. In addition to a cleft, DVWS characteristically includes generally two labial pits on the lower lip. The pits may be symmetrical or asymmetrical, with saliva draining from them, or may also be abnormally flabby or conical-shaped mucosal elevations without distinct pitting. In PPS, the cleft patient commonly presents with an extensive single lower lip pit with salivary drainage, as well as popliteal webs/pterygia of the lower limb/limbs. Additional defects may include intraoral synechial web, syndactyly and genito-urinary malformations. Methods: One case (infant) with two family members presented with overlapping deformities associated with DVWS, as well as PPS. Sequencing of the IRF6- gene was performed on one of the members. Results: The surgical records of 4182 patients of a major cleft lip and palate clinic recorded 71 (1.70%) patients diagnosed with DVWS, 12 (0.29%) with PPS and one infant (0.02%) as an interlinked DVWS-PPS. In the family of the baby presented in this paper, all three affected individuals are females and each the third child in the family, who have lip pits typically associated with DVWS that are both bilateral and symmetrical. The grandmother and grandchild, but not the mother, has underdeveloped or minor unilateral popliteal webs. All three have syndactyly of their feet with hypoplastic toenails (involving one to three phalanges) and pyramidal-shaped (or redundant) skin above the hallux nail of the main phalanges. Conclusion: The infant and two family members are identified as interlinked DVWS-PPS.

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