Abstract：
BACKGROUND: Ellis-van Creveld (EVC) syndrome is an autosomal recessive disorder predominantly characterized by a disproportionate dwarfism, ectodermal dysplasia, postaxial polydactyly, and congenital heart malformations and pulmonary hypoplasia.
OBJECTIVE: In this article, we hereby present a case of a 6-year-old Brazilian boy with EVC syndrome who presented a rare oral lesion as well as a remarkable number of classical and uncommon oral and dental features.
METHODS: Clinical and radiographic examination revealed multiple enamel hypoplasia, teeth agenesis, conical teeth, lower canine rotation, bilateral posterior crossbite, taurodontism of deciduous and permanent molars and delayed tooth eruption, dental caries, and absent vestibular sulcus. Additionally, a whitish lobulated nodule located in the alveolar ridge in the anterior region of the mandible was noted. Anatomopathological examination was compatible with the diagnosis of peripheral odontogenic fibroma (POF). In a 10-month clinical follow-up, no signs of recurrence were observed.
CONCLUSIONS: In view of the characteristic oral findings of EVC syndrome and the potential for recurrence of POF, the pediatric dentist plays an essential role in clinical follow-up, planning and preventive, and rehabilitative treatment.
OBJECTIVE: In this article, we hereby present a case of a 6-year-old Brazilian boy with EVC syndrome who presented a rare oral lesion as well as a remarkable number of classical and uncommon oral and dental features.
METHODS: Clinical and radiographic examination revealed multiple enamel hypoplasia, teeth agenesis, conical teeth, lower canine rotation, bilateral posterior crossbite, taurodontism of deciduous and permanent molars and delayed tooth eruption, dental caries, and absent vestibular sulcus. Additionally, a whitish lobulated nodule located in the alveolar ridge in the anterior region of the mandible was noted. Anatomopathological examination was compatible with the diagnosis of peripheral odontogenic fibroma (POF). In a 10-month clinical follow-up, no signs of recurrence were observed.
CONCLUSIONS: In view of the characteristic oral findings of EVC syndrome and the potential for recurrence of POF, the pediatric dentist plays an essential role in clinical follow-up, planning and preventive, and rehabilitative treatment.
摘要：
背景：Ellis-vanCreveld（EVC）综合征是一种常染色体隐性遗传疾病，主要特征为不成比例的侏儒症，外胚层发育不良,后轴多指，先天性心脏畸形和肺发育不全.
目的：在本文中，我们在此介绍一例患有EVC综合征的6岁巴西男孩，该男孩表现出罕见的口腔病变以及大量经典和罕见的口腔和牙齿特征。
方法：临床和影像学检查显示多发釉质发育不全，牙齿发育不全,锥形齿,较低的犬齿旋转，双侧后咬合，乳牙和恒磨牙的牛牙症和延迟的牙齿萌出，龋齿,前庭沟缺失。此外,注意到位于下颌骨前部的牙槽中的白色小叶结节。解剖病理学检查与周围牙源性纤维瘤（POF）的诊断兼容。在10个月的临床随访中，没有观察到复发的迹象。
结论：鉴于EVC综合征的特征性口腔表现和POF复发的可能性，儿科牙医在临床随访中起着至关重要的作用，规划和预防，和康复治疗。
目的：在本文中，我们在此介绍一例患有EVC综合征的6岁巴西男孩，该男孩表现出罕见的口腔病变以及大量经典和罕见的口腔和牙齿特征。
方法：临床和影像学检查显示多发釉质发育不全，牙齿发育不全,锥形齿,较低的犬齿旋转，双侧后咬合，乳牙和恒磨牙的牛牙症和延迟的牙齿萌出，龋齿,前庭沟缺失。此外,注意到位于下颌骨前部的牙槽中的白色小叶结节。解剖病理学检查与周围牙源性纤维瘤（POF）的诊断兼容。在10个月的临床随访中，没有观察到复发的迹象。
结论：鉴于EVC综合征的特征性口腔表现和POF复发的可能性，儿科牙医在临床随访中起着至关重要的作用，规划和预防，和康复治疗。
