Tags

Type your tag names separated by a space and hit enter

Lower lip pits: van der woude or kabuki syndrome?
Cleft Palate Craniofac J. 2014 Nov; 51(6):729-34.CP

Abstract

Kabuki syndrome (KS) is a multiple congenital anomaly/mental retardation syndrome with characteristic facial features. Despite more than 350 documented cases and recent correlation of MLL2 mutations as a genetic cause, its full clinical spectrum is still being defined. This report describes two patients who were initially diagnosed with Van der Woude syndrome (VWS) based on the presence of lower lip pits. However, this finding can occur with KS, albeit infrequently. For patients with lower lip pits, a thorough evaluation should be made to distinguish between VWS and KS, as there are differences in long-term prognosis.

Authors

No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

24088119

Citation

David-Paloyo, Ferri P., et al. "Lower Lip Pits: Van Der Woude or Kabuki Syndrome?" The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association, vol. 51, no. 6, 2014, pp. 729-34.
David-Paloyo FP, Yang X, Lin JL, et al. Lower lip pits: van der woude or kabuki syndrome? Cleft Palate Craniofac J. 2014;51(6):729-34.
David-Paloyo, F. P., Yang, X., Lin, J. L., Wong, F. H., Wu-Chou, Y. H., & Lo, L. J. (2014). Lower lip pits: van der woude or kabuki syndrome? The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association, 51(6), 729-34. https://doi.org/10.1597/12-258
David-Paloyo FP, et al. Lower Lip Pits: Van Der Woude or Kabuki Syndrome. Cleft Palate Craniofac J. 2014;51(6):729-34. PubMed PMID: 24088119.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Lower lip pits: van der woude or kabuki syndrome? AU - David-Paloyo,Ferri P, AU - Yang,Xuecai, AU - Lin,Ju-Li, AU - Wong,Fen-Hwa, AU - Wu-Chou,Yah-Huei, AU - Lo,Lun-Jou, Y1 - 2013/10/02/ PY - 2013/10/4/entrez PY - 2013/10/4/pubmed PY - 2018/1/31/medline KW - Kabuki syndrome KW - Van der Woude syndrome KW - lower lip pits SP - 729 EP - 34 JF - The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association JO - Cleft Palate Craniofac. J. VL - 51 IS - 6 N2 - Kabuki syndrome (KS) is a multiple congenital anomaly/mental retardation syndrome with characteristic facial features. Despite more than 350 documented cases and recent correlation of MLL2 mutations as a genetic cause, its full clinical spectrum is still being defined. This report describes two patients who were initially diagnosed with Van der Woude syndrome (VWS) based on the presence of lower lip pits. However, this finding can occur with KS, albeit infrequently. For patients with lower lip pits, a thorough evaluation should be made to distinguish between VWS and KS, as there are differences in long-term prognosis. SN - 1545-1569 UR - https://www.unboundmedicine.com/medline/citation/24088119/Lower_lip_pits:_van_der_woude_or_kabuki_syndrome L2 - http://journals.sagepub.com/doi/full/10.1597/12-258?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub=pubmed DB - PRIME DP - Unbound Medicine ER -