Oral findings in ankyloblepharon-ectodermal dysplasia-cleft lip/palate (AEC) syndrome†
How to cite this article: Farrington F, Lausten L. 2009. Oral findings in ankyloblepharon-ectodermal dysplasia-cleft lip/palate (AEC) syndrome. Am J Med Genet Part A 149A:1907–1909.
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. © 2009 Wiley-Liss, Inc.
Hay and Wells described ankylopharon-ectodermal dysplasia-cleft lip/palate (AEC) syndrome, a specific type of ectodermal dysplasia associated with cleft lip and/or palate and congenital filiform fusion of the eyelids [Hay and Wells, 1976]. The reported craniofacial findings include an oval face; broad nasal bridge; maxillary hypoplasia; cleft lip and/or palate; conical, widely spaced teeth; and varying degrees of hypodontia [Smith, 2006].
The subjects for this study were 18 individuals diagnosed with AEC syndrome attending the International Research Symposium on Ankyloblepharon-Ectodermal Dysplasia-Cleft Lip/Palate (AEC) Syndrome in Houston, Texas, on November 8–10, 2006. Subjects ranged in age from 4 months to 30 years with an average age of 7 years, 6 months. Nine were male, and nine were female. There were two sibling pairs from two different families, and one family with four members. Each subject or parent provided a dental history of prior dental and surgical treatment. The same exam team conducted a clinical oral examination with mirror and explorer. Panoramic radiographs were obtained on 12 individuals. Six young children were too uncooperative to obtain a radiograph.
Varying degrees of hypodontia in both the primary and/or permanent dentitions were seen based on expected dentition by age. The teeth present showed conical shaped incisors and small occlusal tables in molars typical of the ectodermal dysplasias. The average number of permanent teeth observed clinically and on radiograph in 12 subjects over the age of 2 years was 4.75, with a range of zero to 12. The mean number of teeth present is consistent with the report by Pirinen 1998 that showed a mean of 5 teeth. The range of teeth is also consistent with previous studies by Guckes et al. 1998 and Pirinen 1998 that showed a range of 4–14 teeth. Enamel hypoplasia, mainly involving the smooth surfaces of the anterior teeth and smooth surfaces and cusp tips of molars, was noted in five cases. This mainly presented as smooth white spots or yellow discoloration with minor surface defects in the enamel.
The same 12 subjects were used in determining the most common teeth present. The permanent teeth most likely to be present were: maxillary and mandibular first molars, both 21% each; maxillary central incisors, 17%; mandibular canines, 14%; and maxillary canines, 10%. Maxillary and mandibular second molars, maxillary second premolars, maxillary first premolars, maxillary lateral incisor and mandibular central incisors were present once each within the cohort. These findings are consistent with those of Guckes et al. 1998 and Pirinen 1998, except for the smaller number of maxillary canines and incisors present. Table I provides a summary of the dental findings. There did not appear to be an identifiable dental phenotype of members within the same family with wide variability of findings among all of the study subjects. This may be related to variable expressivity of the gene or other unknown factors.
Dental Findings the AEC Syndrome
*Same family with four members.
#Same family with two members.
+Same family with two members.
All subjects except two infants had been previously seen for some level of oral health care. Active dental caries was found in only one case. Oral hygiene, as indicated by the amount of plaque and other debris on the teeth, was similar to that expected in a general population of the same ages. Only one case showed a significant lack of any regular daily home brushing care. Restorations on primary dentition consisted of stainless steel crowns on molars and composite crowns on primary anterior teeth. Permanent molars were mainly restored with cast crowns and incisors with veneered crowns. Amalgam restorations on permanent premolars and molars were seen in only a few instances. Prosthetic appliances were present in four cases (22%), including one case of a maxillary complete denture and implant-supported mandibular partial denture with two anterior and one posterior fixtures. One 8-year-old child had tried a maxillary denture in the past but was not wearing it at the time of this evaluation, and one 15-year-old was under orthodontic care for expansion of the maxillary arch prior to alveolar grafting for implants and was not wearing the prosthesis. Fourteen subjects (22%) did not have prosthetic appliances, including four children under the age of 3 years considered too young for prosthetic treatment.
Varying degrees of maxillary hypoplasia was noted in 11 (61%) cases; all with repaired palatal clefts. This maxillary hypoplasia contributed to the maxillary cross-bites seen in 8 (44%) cases; 4 being cross-bites of the entire maxillary dentition and 4 the maxillary anterior teeth only.
The dental findings in these subjects with AEC syndrome is similar to that described in the literature [Bergendal and Kural, 1998; Guckes et al., 1998; Pirinen, 1998]. The higher incidence of missing permanent maxillary incisors and canines may be attributed to by the alveolar cleft defect. The relatively high incidence of maxillary hypoplasia is not normally seen in other ectodermal dysplasia syndromes and may be attributed to the facial growth problems related to the clefts.
All the subjects have received ongoing dental care, and the general oral health of the study group was good. The number of subjects with dental prosthesis to replace missing teeth was lower than expected compared to groups of individuals with ectodermal dysplasia surveyed and seen during screenings at National Foundation for Ecdoermal Dysplasias (NFED) conferences. In discussion with subjects and parents, the lack of tooth replacement in many cases is due to additional treatment problems related to the maxillary deformity attributable to the cleft. Funding problems due to the lack of recognition that the oral and facial deformities are part of the overall medical problem continues to be an issue with many insurance programs in a number of states. The prosthetic care seen was in line with the recommendations in the Parameters of Oral Health Care for Individuals Affected by Ectodermal Dysplasia Syndromes and other reports of dental care in the literature [Bergendal and Kural, 1998; Sweeny et al., 2005; Hickey and Salter, 2006; NFED, 2007; Rad et al., 2007]. Dental treatment seen in the group examined centered on the replacement of deformed and missing teeth commonly seen in ectodermal dysplasia syndromes. Treatment is modified in a number of cases to manage the additional deformity created by clefts of the lip and palate.
The Symposium presented the opportunity to examine the largest group of AEC individuals at one time. The findings of the oral examinations further support the findings that have been published in the literature. The findings of this study also support that the oral health care received is in line with accepted standards and appropriate for individuals with an ectodermal dysplasia syndrome and an underlying clefting defect.
We would like to recognize the National Foundation for Ectodermal Dysplasias for their continued support of the oral health care of those affected by the ectodermal dysplasias. A sincere thanks to the patients and families for their cooperation with the dental examinations.