New radiological findings and radiculomegaly in oculofaciocardiodental syndrome with a novel BCOR mutation: A case report

Medicine (Baltimore). 2018 Dec;97(49):e13444. doi: 10.1097/MD.0000000000013444.


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.

Publication types

  • Case Reports

MeSH terms

  • Cataract / congenital*
  • Cataract / diagnostic imaging
  • Cataract / genetics
  • Cataract / rehabilitation
  • Child
  • Female
  • Heart Septal Defects / diagnostic imaging*
  • Heart Septal Defects / genetics*
  • Heart Septal Defects / rehabilitation
  • Humans
  • Incisor / diagnostic imaging
  • Incisor / growth & development
  • Microphthalmos / diagnostic imaging*
  • Microphthalmos / genetics*
  • Microphthalmos / rehabilitation
  • Mutation*
  • Orthodontics, Corrective
  • Proto-Oncogene Proteins / genetics*
  • Repressor Proteins / genetics*
  • Tooth Abnormalities / diagnostic imaging*
  • Tooth Abnormalities / genetics*
  • Tooth Abnormalities / rehabilitation
  • Tooth Root / diagnostic imaging
  • Tooth Root / growth & development
  • Treatment Outcome


  • BCOR protein, human
  • Proto-Oncogene Proteins
  • Repressor Proteins

Supplementary concepts

  • Microphthalmia, syndromic 2