Oral phenotype and variation in focal dermal hypoplasia.

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.

Oral findings in ankyloblepharon-ectodermal dysplasia-cleft lip/palate (AEC) syndrome.

This article outlines the dental conditions and treatment findings of individuals ranging in age from 4 months to 30 years of age diagnosed with ankyloblepharon-ectodermal dysplasia-cleft lip/palate (AEC) syndrome. The average number of permanent teeth present is 4.75 with a range of 0-12 teeth. The most frequently present permanent teeth are first molars, canines and maxillary incisors. The dentition of AEC-affected individuals in our study is similar to reports in other ectodermal dysplasia syndromes. The dental treatment findings, including those necessitated by the cleft palate defect seen in the syndrome, are also similar to age appropriate treatment seen in other cases of ectodermal dysplasia syndromes. Only 22% of subjects had prosthetic replacement of missing teeth. History indicated that issues related to treatment of the palatal cleft and lack of recognition of the oral defects as a part of the underlying medical problem were factors in receiving comprehensive tooth replacement care.

Rural versus urban analysis of dental procedures provided to Virginia Medicaid recipients.

PURPOSE: The purpose of this study was to report the distribution of procedures provided to Virginia Medicaid children by 3 types of dental providers in rural and urban areas. METHODS: Medicaid claims filed for dental patients less than 21 years old were obtained and analyzed for fiscal years 1994-1995. Dental providers were categorized according to their practice type: (1) general practice (GP); (2) pediatric (PD); and (3) public health (PH) dentists. Each type of practice was categorized as practicing in a metropolitan, urban, rural, or completely rural location and evaluated for percentages of preventive, diagnostic, and corrective services provided. RESULTS: Rural areas had a higher percentage of significant providers than did metropolitan or urban areas. General dentists performed more diagnostic and preventive but fewer corrective procedures than pediatric dentists. Pediatric dentists and general dentists in completely rural areas performed more corrective procedures than their counterparts in metropolitan or urban areas. CONCLUSIONS: General, pediatric, and public health dentists in metropolitan and urban areas perform slightly more diagnostic services and fewer corrective services than practitioners in more rural areas.

Barriers to dental care for children in Virginia with autism spectrum disorders.

PURPOSE: The purposes of this study were to examine the reported use of dental services for families of children with autistic spectrum disorders and identify barriers that affect their access to dental care. METHODS: Participants were caregivers of at least 1 child with an autism spectrum disorder. Caregivers completed a questionnaire that assessed access and barriers to dental services. Descriptive, bivariate, and multivariate regression analyses were conducted to examine dental care access issues in relation to individual factors. RESULTS: Each respondent's household income and child's history of difficult behavior in the dental office were significantly related to the ability to receive care when needed and whether the child had a regular dental provider. An inability to find a dentist with the skills or willingness to work with people with disabilities was the most frequent reason cited for not having a regular dental provider. CONCLUSIONS: Children with autism spectrum disorders who display difficult behavior are less likely to have a dentist for routine car, have longer intervals between dental appointments, and receive care when needed.