Management of Severely Atrophic Maxilla in Ectrodactyly Ectodermal Dysplasia-cleft Syndrome

Abstract

Background:Ectrodactyly ectodermal dysplasia-cleft syndrome is a rare genetic syndrome with an incidence of 1/90,000 live births, characterized by cleft lip and palate, severely hypoplastic maxilla, and hypodontia. Patients diagnosed with ectrodactyly ectodermal dysplasia-cleft syndrome suffer from a severely hypoplastic maxilla that is highly difficult to treat using traditional orthognathic methods. In this study, we propose using distraction osteogenesis to achieve a major advancement while maintaining good stability and minimal relapse. To our knowledge, this is the first description of patients with this syndrome treated using distraction osteogenesis.Methods:Five patients diagnosed with ectrodactyly ectodermal dysplasia-cleft syndrome were included in the study. All patients had been operated on according to the well-established protocol of cleft lip and palate reconstruction before maxillary distraction osteogenesis. Hard and soft-tissue changes were evaluated by cone beam computed tomography and lateral cephalograms before distraction osteogenesis (T1), at the postdistraction point (T2) and after 1 year of follow-up (T3).Results:Examination revealed marked maxillary advancement in all our patients with a significant mean difference in hard tissue parameters (condylion to A point = 18 mm; nasion-sella line to A point = 15.2 degrees) and a notable improvement in facial convexity (20.9 degrees). One year follow-up measurements demonstrated mild relapse rates of 6% in the horizontal plane.Conclusions:We conclude that despite the challenging anatomic and physiological features of ectrodactyly ectodermal dysplasia-cleft patients, by enhancing current surgical techniques, there is promising potential for improved patient outcomes, achieving normognathic facial appearance with implant supported rehabilitation.

Prosthetic rehabilitation of a patient with ectrodactyly‐ectodermal dysplasia‐cleft lip/palate syndrome through a hybrid workflow: A case report with 2‐year follow‐up

“…To achieve normal facial proportions and intermaxillary relations, a marked maxillary advancement is required. 27 Due to ectrodactyly, maintaining acceptable oral hygiene is especially difficult for the patient, although by taking the time to correctly educate and motivate him it was possible to achieve a satisfactory condition even 2 years after the insertion. Pettit et al also draw attention to the importance of oral hygiene education and prevention.…”

“…demonstrate that despite challenging anatomic features of EEC patients, there is promising potential for improved appearance, intermaxillary relations, and even dental rehabilitation in patients. To achieve normal facial proportions and intermaxillary relations, a marked maxillary advancement is required 27 …”

Key aspects of dental diagnostics and treatment specifics in ectodermal dysplasia patients: comprehensive literature review

“…Orthodontic support and efficient treatment can form conditions for optimal maxillofacial growth while adapting favorable inter-jaw association [45]. Surgical approaches, which possibly can differ among patients with ED include orthognathic management, midfacial defects correction, cleft lip or/ and palate repair, and supportive augmentation procedure, with optimizing condition for future dental implants placement [46]. Rachimel et al proposed time-structured treatment algorithm for ectrodactyly ED-cleft syndrome patients with severe atrophic mandible, which included next stages [46] (Table 2).…”

“…Time-structured treatment algorithm for ectrodactyly ectodermal dysplasia-cleft syndrome patients proposed by Rachimel et al[46] Oral care supply program for the patients with hypohidrotic ectodermal dysplasia[47] …”