Radiculomegaly of permanent canines and first premolars: Report of two cases in conjunction with oculo-facio-cardio-dental syndrome

Abstract is not required for Clinical Imagesis not required for Clinical Images (This page in not part of the published article.) International Journal of Case Reports and Images, Vol. 6 No. 3, March 2015. ISSN – [0976-3198] Int J Case Rep Images 2015;6(3):189–192. www.ijcasereportsandimages.com Iwase et al. 189 CASE REPORT OPEN ACCESS Radiculomegaly of permanent canines and first premolars: Report of two cases in conjunction with oculo-facio-cardiodental syndrome Masayasu Iwase, Hiroaki Nishijima, Gen Kondo, Michiko Ito

radiograph, tooth length and radiculomegaly in the lower canines and first premolars had significantly increased ( Figure 1B). The cephalogram analytical data showed marked craniofacial dysmorphology, characterized by an extremely decreased anterior and posterior cranial base and decreased midfacial depth with a short midfacial height. The mandible was characterized by a remarkably large gonial angle and small lower facial depth. Both the anterior maxillary and mandibular heights had increased. Malocclusion was characterized by a bimaxillary skeletal discrepancy with maxillary undergrowth and oligodontia. We planned to undertake orthognathic surgery and prosthodontic treatment for the improvement of the craniofacial dysmorphology and skeletal class III malocclusion. Subsequently, at the age of 19 years 10 months, she underwent sagittal split ramus osteotomy ( Figure 1C). Furthermore, she received prosthodontic treatment because of impairment of tooth form. Figure 1: (A) Photograph of patient 1 at the age of 18 years, (B) Panoramic radiograph of patient 1 at the age of 18 years, The lower canines and first premolars conspicuously showed increased tooth length and radiculomegaly, (C) Panoramic radiograph of patient 1 at the age of 19 years after sagittal split ramus osteotomy. Mandibular prognathism was improved by the orthognathic surgery. Case 2: A 6-year-old Japanese girl was referred to us for crossbite of the incisors. After a normal pregnancy, she was born at term with a birth weight of 3,040 g and length of 47 cm. At birth, the patient was noted to have multiple congenital anomalies. She had bilateral congenital cataracts and secondary glaucoma. A congenital heart defect was excluded by an echocardiographic examination and a ventricular septal defect has been monitored by a cardiologist since she was 12 years of age, with no further cardiac symptoms. Surgical correction for the cleft palate was performed at the age of 1 year 4 months. Her stature was small, below average for her age. The patient had a narrow face, high nasal bridge, separated cartilages of the nasal tip, broad chin, and mild ptosis at the initial consultation. Her intellectual development was mildly retarded. Delayed dental eruptions were evident. Agenesis of the permanent incisor teeth of the mandible was found by a panoramic radiograph at the age of six years (data not shown). In addition, conspicuously wide open root apices and root dilacerations were noticed in the teeth that later developed canine radiculomegaly ( Figure 2). At the age of six years, she started orthodontic treatment and is at present continuing the treatment. Similar to Case 1, we intend to perform orthognathic surgery for the improvement of her jaw deformity in the near future.

CLINICAL IMAGES PEER REVIEWED | OPEN ACCESS
Most affected patients have hallmark dental anomalies, including radiculomegaly with prolonged dental roots and widely open apices, most typically in the canine roots [3][4][5]. Additional dental anomalies include delayed eruption of both deciduous and permanent teeth, persistence of deciduous teeth, and oligodontia. Previous reports have pointed out that the most important criteria leading to the diagnosis of OFCD syndrome are dental abnormalities, in particular extreme elongation of the cuspids' roots [1]. Radiculomegaly of incisors, canines, and premolars is a typical finding of OFCD [3][4][5]. Even in adult patients, the affected teeth show vast extension of the root and open apices [1]. Although the average tooth lengths of the normal mandibular canine and first premolar in Japanese are about 24 mm and 21 mm, respectively [4], the lengths of these abnormal teeth are more than 50 mm in the presented cases. Diagnosis can only be confirmed between 15 and 20 years of age, when the radiculomegaly becomes evident [3]. Histological study of canines accompanied with radiculomegaly has shown dentine formation disorder and thin enamel [6]. Ng et al. clearly found that OFCD syndrome is caused by mutations in the BCL6 co-repressor (BCOR) gene [7]. A recent study has suggested that mutation of periodontal ligament cells in the BCOR may contribute to hypersensitive root formation [8]. Although ocular, facial, and cardiac findings are found at an early age, the dental findings cannot be expected to appear simultaneously. Therefore, it is difficult for clinicians to confirm the diagnosis of OFCD syndrome until the development of dental findings, including radiculomegaly, delayed dentition, oligodontia, root dilacerations, and open root apex.
It is troublesome for OFCD syndrome patients to undergo proper dental treatment in endodontic treatment, tooth extraction, and orthodontic treatment [4,5]. We only limited the orthodontic treatment to the improvement of malocclusion in these presented patients; we performed orthognathic surgery and prosthodontic treatment.

CONCLUSION
We report two new cases of female patients with radiculomegaly of canines and premolars associated with oculo-facio-cardio-dental (OFCD) syndrome.  Gorlin et al. have referred to a combination of congenital cataracts, facial characteristic appearance, cardiac anomalies, and typical dental findings as oculofacio-cardio-dental (OFCD) syndrome [1]. A previous study reported that OFCD syndrome relates to an X-linked dominant trait [1]. X-linked dominant conditions with male hemizygosity can become lethal [2]. In this case report, although we could not obtain inherent evidence, the presented patients with OFCD syndrome were also females.

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