Patient with oculo-facio-cardio-dental syndrome treated with surgical orthodontics

Sakaguchi, Katsuyoshi; Yagi, Takakazu; Nagata, Jun; Kubota, Takeshi; Sugihara, Kazumasa; Miyawaki, Shouichi

doi:10.1016/j.ajodo.2011.10.020

Cited by 10 publications

(6 citation statements)

References 20 publications

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“…To date, a number of cases of OFCD have been documented, [11] including after orthodontic treatment. [15,16] Moreover, we report novel important findings of an OFCD patient who has not been previously reported. Radiographic examination showed round pulp stone-like calcification (PSLC) in immature dental pulp and a calcified dental papilla (CDP), which was seen beneath the wide immature OA of a permanent dental root in the mixed dentition.…”

Section: Introductionmentioning

confidence: 60%

“…However, there are few case reports on the orthodontic treatment of OFCD patients [16,20] using an integrated orthodontic–prosthodontic approach [21] and orthognathic surgery. [15] Our case also involved alignment of the teeth orthodontically starting at 10 years of age after gingival fenestration to retract 23. We performed cephalometric analysis, which showed a large gonial angle and mandibular protrusion (data not shown) at 10 years of age as previous data has shown.…”

Section: Discussionmentioning

confidence: 99%

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New radiological findings and radiculomegaly in oculofaciocardiodental syndrome with a novel BCOR mutation

Kato

Kushima²,

Kushima³

2018

Medicine

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Rationale:Oculofaciocardiodental syndrome (OFCD) patients who show radiculomegaly are very rare. We treated a new OFCD patient orthodontically, and performed longitudinal observation for 30 years. New findings, termed calcified-dental-papillae (CDPs) beneath open-apices (OAs) of developing radiculomegalies, pulp-stone-like-calcifications (PSLCs) and the process of radiculomegaly development were observed. A novel mutation of BCL-6 interacting corepressor (BCOR) was identified. Cone-beam-computed-tomography (CBCT) images of the radiculomegalies clarified their morphology.Patient concerns:A female patient and her parents were referred to orthodontic clinic for alignment of the teeth.Diagnosis:A CDP that harbored bulbous-round-calcified-tissue in the dental papilla beneath the OA of a developing radiculomegaly was found radiographically. PSLCs were observed in the dental pulp. Genetic analysis revealed a novel mutation c.265G>A on Exon 4 and diagnosed as OFCD. CBCT images confirmed round-calcified-tissue and PSLC and that the length of an affected canine was 38.0 mm and calculated as +14.8SD. These novel findings were not observed in lateral incisors and molars.Interventions:Observation was performed for 29 years and 3 months including orthodontic treatment for 2 years and 9 months.Outcome:Longitudinal follow-up for 26 years and 7 months after the treatment revealed that the development of radiculomegaly every few months or years, CDPs beneath OAs and PSLCs were observed. CDPs, PSLCs, and OAs were associated with radiculomegaly. The patient and the affected teeth including aligned teeth showed no particular change after the completion of the radiculomegaly. CBCT images showed bulbous-calcified-tissue and PSLCs in the mature dental pulp associated with radiculomegaly.Lessons:The radiographical findings of CDP, OA and PSLC help early diagnose of OFCD and have importance for initiating orthodontic treatment until radiculomegaly completion.

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Section: Introductionmentioning

confidence: 60%

Section: Discussionmentioning

confidence: 99%

New radiological findings and radiculomegaly in oculofaciocardiodental syndrome with a novel BCOR mutation

Kato

Kushima²,

Kushima³

2018

Medicine

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“…53,55 Is characterized by ocular abnormalities (congenital cataract, microphthalmia, [52][53][54][55]57,58 and/or microcornea, 55 secondary glaucoma), 53,58 craniofacial feautures (long and narrow face, high-nasal bridge, 53,[55][56][57][58] broad nasal tip, 54,[56][57][58] bifid nose, 52,56 long philtrum ,54 ear deformity), 56 high and narrow palate, 52,54 cleft palate, [52][53][54]56,58 dental findings (radiculomegaly of permanent teeth as consistent feature, [52][53][54][55][56] delayed eruption and persistent primary dentition, 54,56,57 oligodontia, 52,53 and ST). 53,56 These last anomalies are due to the BCOR gene is expressed in both dental epithelium and the mesenchyme during the early stages of tooth development. 53 The cardiac anomalies (atrial and ventricular septal defects, [52][53]…”

Section: Oculofaciocardiodental Syndromementioning

confidence: 99%

Main genetic entities associated with supernumerary teeth

Cammarata‐Scalisi

Avendaño

Callea

2018

Arch Argent Pediatr

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Supernumerary teeth represent a common human dental anomaly, defined as presence of extra teeth-more than the normal number foreseen in primary or permanent dentition. The prevalence has been reported between 0.2 to 3%, and is more frequent in males than females. The etiology is heterogeneous, highly variable and most of the cases are idiopathic. However, the presence of multiple impacted or erupted supernumerary teeth is rare and associated with some genetic syndromes: cleidocranial displasia, familial adenomatous polyposis, trichorhinophalangeal syndrome type I, Rubinstein-Taybi syndrome, Nance-Horan syndrome, Opitz G/BBB syndrome, oculofaciocardiodental syndrome and Robinow syndrome (autosomal dominant). The supernumerary teeth should be considered in order to possibly diagnose these entities with the aim of offering an interdisciplinary management and treatment, as well as offer adequate family genetic counseling.

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“…53,55 Esta entidad se caracteriza por anomalías oculares (catarata congénita, microftalmia [52][53][54][55]57,58 o microcórnea, 55 glaucoma secundario), 53,58 características craneofaciales (cara larga y estrecha, tabique nasal alto, 53,[55][56][57][58] punta nasal ancha, 54,[56][57][58] nariz bífida, 52,56 surco nasolabial largo, 54 deformidad de las orejas), 56 paladar alto y estrecho, 52,54 fisura palatina, [52][53][54]56,58 manifestaciones dentales (la radiculomegalia de los dientes permanentes es una característica sistemática, [52][53][54][55][56] además de dentición tardía, dientes de leche persistentes, 54,56,57 oligodoncia 52,53 y DS). 53,56 Estas últimas anomalías se deben a que el gen BCOR se expresa en el epitelio y el mesénquima durante las primeras etapas del desarrollo de los dientes. 53 Se observan anomalías cardíacas (comunicación interventricular, comunicación interauricular [52][53][54][55]57 y p...…”

Section: Síndrome Oculofaciocardiodentalunclassified

Principales entidades genéticas asociadas con dientes supernumerarios

2018

Arch Argent Pediatr

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Patient with oculo-facio-cardio-dental syndrome treated with surgical orthodontics

Cited by 10 publications

References 20 publications

New radiological findings and radiculomegaly in oculofaciocardiodental syndrome with a novel BCOR mutation

New radiological findings and radiculomegaly in oculofaciocardiodental syndrome with a novel BCOR mutation

Main genetic entities associated with supernumerary teeth

Principales entidades genéticas asociadas con dientes supernumerarios

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