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A case of vander woude syndrome with rare phenotypic expressions.
J Clin Diagn Res. 2014 Oct; 8(10):PD03-5.JC

Abstract

Van der Woude syndrome (VWS) is a rare developmental disorder with an autosomal dominant inheritance. The prevalence of VWS varies from 1:100,000 to 1:40,000 still born or live births. It has variable expressivity and generally expressed as orofacial manifestations like lower lip pits, cleft lip and/or cleft palate, hypodontia, cleft or bifid uvula, ankyloglossia and some extraoral anomalies involving hand, foot and genitalia. Thorough family history, clinical examination and genetic counseling helps in correct diagnosis of VWS as Popliteal pterygium syndrome has overlapping clinical manifestations. Most cases of Van der Woude syndrome have been associated with mutations and genetic changes. The current case has classical features of VWS with some rare features like undescended small testis and unreported finding of syndactyly of second and third toe adds on to the existing knowledge of VWS presentation.

Authors+Show Affiliations

Assistant professor, Department of Oral Medicine and Radiology, King George Medical University , Lucknow,Uttar Pradesh,India .Senior Research Fellow, Department of Dental Research & Implantology, Institute of Nuclear Medicine and Allied Sciences (INMAS), Defence Research and Development Organization (DRDO) Ministry of Defence , Government of India, Timarpur, Delhi, India .Associate Professor, Department of Oral Pathology, King George Medical University , Lucknow, Uttar Pradesh, India .Professor & Head, Department of Oral Medicine and Radiology, King George Medical University , Lucknow, Uttar Pradesh, India .Assistant Professor, Department of Oral Medicine and Radiology, King George Medical University , Lucknow,Uttar Pradesh,India .

Pub Type(s)

Case Reports

Language

eng

PubMed ID

25478421

Citation

Tripathi, Anurag, et al. "A Case of Vander Woude Syndrome With Rare Phenotypic Expressions." Journal of Clinical and Diagnostic Research : JCDR, vol. 8, no. 10, 2014, pp. PD03-5.
Tripathi A, Tiwari B, Gupta S, et al. A case of vander woude syndrome with rare phenotypic expressions. J Clin Diagn Res. 2014;8(10):PD03-5.
Tripathi, A., Tiwari, B., Gupta, S., Patil, R., & Khanna, V. (2014). A case of vander woude syndrome with rare phenotypic expressions. Journal of Clinical and Diagnostic Research : JCDR, 8(10), PD03-5. https://doi.org/10.7860/JCDR/2014/10420.5008
Tripathi A, et al. A Case of Vander Woude Syndrome With Rare Phenotypic Expressions. J Clin Diagn Res. 2014;8(10):PD03-5. PubMed PMID: 25478421.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A case of vander woude syndrome with rare phenotypic expressions. AU - Tripathi,Anurag, AU - Tiwari,Brijesh, AU - Gupta,Shalini, AU - Patil,Ranjit, AU - Khanna,Vikram, Y1 - 2014/10/20/ PY - 2014/06/24/received PY - 2014/08/29/accepted PY - 2014/12/6/entrez PY - 2014/12/6/pubmed PY - 2014/12/6/medline KW - Lip pits KW - Popliteal pterygium syndrome KW - Syndactyly KW - Van der woude syndrome SP - PD03 EP - 5 JF - Journal of clinical and diagnostic research : JCDR JO - J Clin Diagn Res VL - 8 IS - 10 N2 - Van der Woude syndrome (VWS) is a rare developmental disorder with an autosomal dominant inheritance. The prevalence of VWS varies from 1:100,000 to 1:40,000 still born or live births. It has variable expressivity and generally expressed as orofacial manifestations like lower lip pits, cleft lip and/or cleft palate, hypodontia, cleft or bifid uvula, ankyloglossia and some extraoral anomalies involving hand, foot and genitalia. Thorough family history, clinical examination and genetic counseling helps in correct diagnosis of VWS as Popliteal pterygium syndrome has overlapping clinical manifestations. Most cases of Van der Woude syndrome have been associated with mutations and genetic changes. The current case has classical features of VWS with some rare features like undescended small testis and unreported finding of syndactyly of second and third toe adds on to the existing knowledge of VWS presentation. SN - 2249-782X UR - https://www.unboundmedicine.com/medline/citation/25478421/A_case_of_vander_woude_syndrome_with_rare_phenotypic_expressions_ L2 - https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/25478421/ DB - PRIME DP - Unbound Medicine ER -
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