EEC SYNDROME, CLINICAL FINDINGS - CASE REPORT

Abstract

Introduction: Ectrodactyly syndrome, ectodermal dysplasia and cleft lip and/or palate (CEE), is a rare genetic anomaly of autosomal dominant inheritance and estimated incidence of 1.5/100 million inhabitants. The triad that names it are also its main characteristics and gravity can be expressed in different degrees of severity. The objective of this study was to report the case of a child diagnosed with EEC syndrome treated at CEAPAC (Center for Care and Research in Craniofacial Anomalies), narrating the clinical findings, with emphasis on the dental aspects found. Case report: A 10-year-old female child was born well – according to the grandmother's reports. Oral and limb malformations were diagnosed in the prenatal period through ultrasound. The following physical characteristics were observed: corrected complete transforamen right lip cleft, with the presence of a fistula in the anterior region of the palate, hypertelorism, dacryocystitis, prognathism, slightly rotated ears posteriorly, dry skin and hair, ectrodactyly, and bilateral syndactyly of feet and hands. In the dental evaluation, the presence of mixed dentition, dental agenesis, dental shape anomaly, class III skeletal pattern, malocclusion, caries disease and endodontic involvement of a tooth is noted. Results: Despite the malformations in the limbs, the patient had good motor coordination and was instructed about oral hygiene. Then, the treatments continued. The patient is still being monitored. Conclusions: It is necessary that patients with CSE be followed up early and periodically by a multidisciplinary team due to the malformations resulting from the syndrome.