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Oral phenotype and variation in focal dermal hypoplasia.
Am J Med Genet C Semin Med Genet. 2016 Mar; 172C(1):52-8.AJ

Abstract

Focal dermal hypoplasia (FDH) or Goltz Syndrome (OMIM# 305600) is an X-linked dominant ectodermal dysplasia caused by mutations in the PORCN gene. This gene encodes an endoplasmic reticulum transmembrane protein that is involved in processing the embryonically critical WNT signaling proteins. Individuals diagnosed with FDH were recruited to participate in the study through the National Foundation for Ectodermal Dysplasia. Individuals were evaluated to characterize the FDH phenotype. Each participant completed a brief dental survey and oral evaluation using artificial light. To identify the oral soft and hard tissue findings 19 individuals (16 female and 3 male) participated with a median age of 10 years (range 2-56 years). Soft and hard tissue defects were present in 68% (13) and 94% (18) of the patients, respectively. Dental anomalies were highly prevalent with 68% (13) demonstrating vertical enamel grooving, 52% (10) having peg shaped tooth deformities, and 78% (15) having enamel hypoplasia with or without discoloration. Cleft lip and cleft palate presented in 15% (3) of the participants. Other findings included 57% (11) having intra-oral lipoma or papilloma with no site predilection. Dental malocclusions were common with 63% (12) having some degree of malocclusion with 15% (3) of participants having class III malocclusion with an anterior dental cross bite. Participants frequently reported speech problems or difficulty with chewing (73%; N = 14). This study shows there is marked variation in the oral phenotype of individuals with FDH and underscores the important role of WNT signaling in oro-facial development.

Authors

No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

26843121

Citation

Wright, John Timothy, et al. "Oral Phenotype and Variation in Focal Dermal Hypoplasia." American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, vol. 172C, no. 1, 2016, pp. 52-8.
Wright JT, Puranik CP, Farrington F. Oral phenotype and variation in focal dermal hypoplasia. Am J Med Genet C Semin Med Genet. 2016;172C(1):52-8.
Wright, J. T., Puranik, C. P., & Farrington, F. (2016). Oral phenotype and variation in focal dermal hypoplasia. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 172C(1), 52-8. https://doi.org/10.1002/ajmg.c.31478
Wright JT, Puranik CP, Farrington F. Oral Phenotype and Variation in Focal Dermal Hypoplasia. Am J Med Genet C Semin Med Genet. 2016;172C(1):52-8. PubMed PMID: 26843121.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Oral phenotype and variation in focal dermal hypoplasia. AU - Wright,John Timothy, AU - Puranik,Chaitanya P, AU - Farrington,Frank, Y1 - 2016/02/03/ PY - 2016/2/5/entrez PY - 2016/2/5/pubmed PY - 2016/12/15/medline KW - PORCN KW - cleft KW - development KW - enamel KW - hypodontia KW - hypoplasia KW - papilloma SP - 52 EP - 8 JF - American journal of medical genetics. Part C, Seminars in medical genetics JO - Am J Med Genet C Semin Med Genet VL - 172C IS - 1 N2 - Focal dermal hypoplasia (FDH) or Goltz Syndrome (OMIM# 305600) is an X-linked dominant ectodermal dysplasia caused by mutations in the PORCN gene. This gene encodes an endoplasmic reticulum transmembrane protein that is involved in processing the embryonically critical WNT signaling proteins. Individuals diagnosed with FDH were recruited to participate in the study through the National Foundation for Ectodermal Dysplasia. Individuals were evaluated to characterize the FDH phenotype. Each participant completed a brief dental survey and oral evaluation using artificial light. To identify the oral soft and hard tissue findings 19 individuals (16 female and 3 male) participated with a median age of 10 years (range 2-56 years). Soft and hard tissue defects were present in 68% (13) and 94% (18) of the patients, respectively. Dental anomalies were highly prevalent with 68% (13) demonstrating vertical enamel grooving, 52% (10) having peg shaped tooth deformities, and 78% (15) having enamel hypoplasia with or without discoloration. Cleft lip and cleft palate presented in 15% (3) of the participants. Other findings included 57% (11) having intra-oral lipoma or papilloma with no site predilection. Dental malocclusions were common with 63% (12) having some degree of malocclusion with 15% (3) of participants having class III malocclusion with an anterior dental cross bite. Participants frequently reported speech problems or difficulty with chewing (73%; N = 14). This study shows there is marked variation in the oral phenotype of individuals with FDH and underscores the important role of WNT signaling in oro-facial development. SN - 1552-4876 UR - https://www.unboundmedicine.com/medline/citation/26843121/Oral_phenotype_and_variation_in_focal_dermal_hypoplasia_ L2 - https://doi.org/10.1002/ajmg.c.31478 DB - PRIME DP - Unbound Medicine ER -