ArticleLiterature Review

Radiculomegaly: a case report of this rare dental finding with review of the associated oculo-facio-cardio-dental syndrome

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Abstract

Background: Radiculomegaly, or root gigantism, is a rare dental abnormality with important clinical implications. It is highly specific for oculo-facio-cardio-dental (OFCD) syndrome, which places dentists at the forefront of diagnosis of this syndrome. Only 1 case of nonsyndromic radiculomegaly has been reported in the literature since the description of OFCD syndrome in 1996. We present the second confirmed, nonsyndromic/nonfamilial case and review the literature for dental treatments in patients with this dental finding. Study design: A review of the English language literature was performed in PubMed for patients with radiculomegaly or OFCD syndrome. Teeth affected by radiculomegaly, gender, orodental findings, presence of OFCD syndrome, and dental treatment methods were recorded. Results: Sixty-seven cases of radiculomegaly and 92 cases of OFCD syndrome were found in the literature. Only 1 confirmed case of nonsyndromic/nonfamilial radiculomegaly had been reported previously. Ten reports described dental treatment or treatment plan details, and even fewer included specific methods. Conclusions: Because dental anomalies, especially radiculomegaly, are a primary feature of OFCD syndrome, dentists should be aware of the clinical and radiographic features. Radiculomegaly poses a distinct challenge to dentists, and reports of dental therapy provided to these patients are sparse. Early diagnosis of the syndrome may prevent dental challenges and improve prognosis.

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... The first reports of radiculomegaly [5][6][7] related it as a characteristic feature of the X-linked rare congenital syndrome, oculofaciocardiodental syndrome (OFCD). OFCD syndrome is an X-linked dominant trait with potential male lethality [4,8,9], which affects the ocular, facial, cardiac, and dental aspects, with an incidence of less than 1 in 1 million people [4,[8][9][10][11]. Among different dental anomalies that can be found with OFCD syndrome, radiculomegaly of the canines is highly related to this syndrome [4,8,[12][13][14]. ...
... The first reports of radiculomegaly [5][6][7] related it as a characteristic feature of the X-linked rare congenital syndrome, oculofaciocardiodental syndrome (OFCD). OFCD syndrome is an X-linked dominant trait with potential male lethality [4,8,9], which affects the ocular, facial, cardiac, and dental aspects, with an incidence of less than 1 in 1 million people [4,[8][9][10][11]. Among different dental anomalies that can be found with OFCD syndrome, radiculomegaly of the canines is highly related to this syndrome [4,8,[12][13][14]. ...
... OFCD syndrome is an X-linked dominant trait with potential male lethality [4,8,9], which affects the ocular, facial, cardiac, and dental aspects, with an incidence of less than 1 in 1 million people [4,[8][9][10][11]. Among different dental anomalies that can be found with OFCD syndrome, radiculomegaly of the canines is highly related to this syndrome [4,8,[12][13][14]. OFCD syndrome is characterized by heterogeneous clinical features such as dental radiculomegaly, congenital cataracts, facial dysmorphism, and congenital heart disease, which only affects females [10,11,15]. ...
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Introduction: Radiculomegaly (marked elongation of dental roots) is a distinct dental abnormality with a major clinical significance that is closely related to oculofaciocardiodental syndrome (OFCD). Since OFCD syndrome was first identified in 1996, only a few cases of nonsyndromic/nonfamilial radiculomegaly have been reported. We report a new nonsyndromic/nonfamilial radiculomegaly case and the association of OFCD syndrome with the dental challenges. Case Presentation. 18-year-old medically free male presented to the screening dental clinics complaining of teeth malposition. Panoramic radiograph incidentally revealed extremely long and wide roots of almost all dentition. Apical radiographs and cone-beam computed tomography (CBCT) were taken to confirm this anomaly and to rule out any artifact. The images confirmed the excessive length of the roots. A cephalometric X-ray was performed on the patient to rule out any dentofacial deformity. History and physical examinations were negative for ocular or cardiac anomalies. Due to lack of evidence of physical signs and symptoms consistent with OFCD syndrome, genetic testing was not performed. Conclusion: Dentists need to be informed of the clinical and radiographic features of different dental anomalies, especially radiculomegaly, as it is considered one of the significant features of OFCD syndrome. Challenges related to radiculomegaly face dentists while the current literature has not yet provided a solid baseline for managing such patients. The challenges include repairing the root canals, extracting and/or moving the teeth orthodontically. Early diagnosis of the syndrome is crucial to prevent dental challenges and provide the best dental care services.
... However, radiculomegaly was later reported as a characteristic feature of males affected by Klinefelter syndrome [3,8]. To date, only a few nonsyndromic cases of radiculomegaly have been reported [9,10]. Here, we report a case of nonsyndromic radiculomegaly in a Saudi individual and then discuss the aspects of this case in relation to previous studies (Table 1). ...
... In the present case, an association between radiculomegaly and OFCD was excluded since OFCD is an Xchromosome linked disease and is fatal in males [4,10,12]. Our patient also did not exhibit any eye or heart problems. ...
... In the present case, an extreme variation in root length was detected in periapical radiographs (PAs) and with CBCT. Among published reports of radiculomegaly, canine teeth are most commonly affected [4,9,10,20,21]. Being able to obtain accurate root canal length measurements after treatment is also essential for determining the success of a treatment. Conventional methods for measurement involve tools such as an electronic apex locator (EAL) and PAs [22]. ...
Article
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Radiculomegaly is a rare condition involving elongated tooth roots. This condition has significant clinical implications and has been associated with syndromes such as oculofaciocardiodental syndrome. However, only a few nonsyndromic cases of radiculomegaly have been reported. Here, we report a case of nonsyndromic radiculomegaly in a Saudi individual. A subsequent review of the literature suggests endodontic management modalities for individuals with the dental findings demonstrated in the present case.
... The patient they managed apparently had no developmental anomalies other than canine radiculomegaly and maxillary first molar taurodontism. According to a recent review by Smith et al. (2018), few cases of non-syndromic (isolated) radiculomegaly have been published to date. Radiculomegaly, especially of the canines, is in most cases a component of oculo-facio-cardio-dental syndrome (OFCD syndrome) and is its most pathognomonic sign. ...
... Some of the extremely long anterior teeth mentioned above belonged to patients with OFCD syndrome. Over ninety cases of OFCD syndrome were found in a literature survey by Smith et al. (2018). All patients were females because the syndrome is X-linked dominant and therefore lethal in males. ...
... As a result, the Bcor knockout mice failed to show radiculomegaly because of the difference in dentition pattern. Previously, only a few confirmed cases of nonsyndromic/nonfamilial radiculomegaly had been reported but the underlying molecular mechanism remains unclear (Smith et al., 2018). In our study, we analyzed the affected tissue of an OFCD patient to elucidate the genetic regulatory mechanism and the influences on phenotype. ...
Article
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Mutations in the B-cell lymphoma 6 (BCL6) interacting corepressor (BCOR) cause oculo-facio-cardio-dental (OFCD) syndrome, a rare X-linked dominant condition that includes dental radiculomegaly among other characteristics. BCOR regulates downstream genes via BCL6 as a transcriptional corepressor. However, the molecular mechanism underlying the occurrence of radiculomegaly is still unknown. Thus, this study was aimed at identifying BCOR-regulated genetic pathways in radiculomegaly. The microarray profile of affected tissues revealed that the gene-specific transcriptional factors group, wherein nucleus factor 1B, distal-less homeobox 5, and zinc finger protein multitype 2 (ZFPM2) were the most upregulated, was significantly expressed in periodontal ligament (PDL) cells of the diseased patient with a frameshift mutation (c.3668delC) in BCOR. Wild-type BCOR overexpression in human periodontal ligament fibroblasts cells significantly hampered cellular proliferation and ZFPM2 mRNA downregulation. Promoter binding assays showed that wild-type BCOR was recruited in the BCL6 binding of the ZFPM2 promoter region after immunoprecipitation, while mutant BCOR, which was the same genotype as of our patient, failed to recruit these promoter regions. Knockdown of ZFPM2 expression in mutant PDL cells significantly reduced cellular proliferation as well as mRNA expression of alkaline phosphatase, an important marker of odontoblasts and cementoblasts. Collectively, our findings suggest that BCOR mutation-induced ZFPM2 regulation via BCL6 possibly contributes to hyperactive root formation in OFCD syndrome. Clinical data from patients with rare genetic diseases may aid in furthering the understanding of the mechanism controlling the final root length.
... The dental anomalies include radiculomegaly, oligodontia, root dilacerations, malocclusion, and delayed eruptions (Gorlin et al., 1996;Kato, Kushima e Kushima, 2018;. Smith, Cohen, Bhattacharyya, Islam, & Kashtwari (2018) reviewed the literature concerning the patients with radiculomegaly and OFCD syndrome, revealing that in only one study was confirmed a case of nonsyndromic/nonfamilial radiculomegaly until that moment. ...
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