Two Cases of Oculofaciocardiodental (OFCD) Syndrome due to X-Linked BCOR Mutations Presenting with Infantile Hemangiomas: Phenotypic Overlap with PHACE Syndrome
Background. Oculofaciocardiodental (OFCD) syndrome is due to mutations in BCOR (BCL-6 corepressor). OFCD has phenotypic overlaps with PHACE syndrome (Posterior fossa anomalies, Hemangioma, Arterial anomalies, Cardiac defects, Eye anomalies). Infantile hemangiomas are a key diagnostic criterion for P...
Saved in:
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2019-01-01
|
| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2019/9382640 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1832554793010200576 |
|---|---|
| author | T. M. Morgan J. M. Colazo L. Duncan R. Hamid K. M. Joos |
| author_facet | T. M. Morgan J. M. Colazo L. Duncan R. Hamid K. M. Joos |
| author_sort | T. M. Morgan |
| collection | DOAJ |
| description | Background. Oculofaciocardiodental (OFCD) syndrome is due to mutations in BCOR (BCL-6 corepressor). OFCD has phenotypic overlaps with PHACE syndrome (Posterior fossa anomalies, Hemangioma, Arterial anomalies, Cardiac defects, Eye anomalies). Infantile hemangiomas are a key diagnostic criterion for PHACE, but not for OFCD. A previous study reported two cases of infantile hemangiomas in OFCD, but the authors could not exclude chance association. Case Presentation. We describe two novel cases of female patients (one initially diagnosed with PHACE syndrome), both of whom had infantile hemangiomas. Ophthalmological findings were consistent with oculofaciocardiodental (OFCD) syndrome. Upon genetic testing, these two females were determined to have X-linked BCOR mutations confirming OFCD syndrome diagnoses. Conclusion. These case reports add support to the hypothesis that infantile hemangiomas may be a feature of OFCD. BCOR may potentially be within a pathway of genes involved in PHACE syndrome and/or in infantile hemangioma formation. |
| format | Article |
| id | doaj-art-a54826ae6fa94e9b8fc9896f2fc1d92e |
| institution | Kabale University |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2019-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-a54826ae6fa94e9b8fc9896f2fc1d92e2025-02-03T05:50:34ZengWileyCase Reports in Genetics2090-65442090-65522019-01-01201910.1155/2019/93826409382640Two Cases of Oculofaciocardiodental (OFCD) Syndrome due to X-Linked BCOR Mutations Presenting with Infantile Hemangiomas: Phenotypic Overlap with PHACE SyndromeT. M. Morgan0J. M. Colazo1L. Duncan2R. Hamid3K. M. Joos4Vanderbilt University School of Medicine, Department of Pediatrics, Nashville, TN, USAVanderbilt University School of Medicine, Medical Student, Nashville, TN, USAVanderbilt University School of Medicine, Department of Pediatrics, Nashville, TN, USAVanderbilt University School of Medicine, Department of Pediatrics, Nashville, TN, USAVanderbilt Eye Institute, Vanderbilt University Medical Center, Nashville, TN 37232, USABackground. Oculofaciocardiodental (OFCD) syndrome is due to mutations in BCOR (BCL-6 corepressor). OFCD has phenotypic overlaps with PHACE syndrome (Posterior fossa anomalies, Hemangioma, Arterial anomalies, Cardiac defects, Eye anomalies). Infantile hemangiomas are a key diagnostic criterion for PHACE, but not for OFCD. A previous study reported two cases of infantile hemangiomas in OFCD, but the authors could not exclude chance association. Case Presentation. We describe two novel cases of female patients (one initially diagnosed with PHACE syndrome), both of whom had infantile hemangiomas. Ophthalmological findings were consistent with oculofaciocardiodental (OFCD) syndrome. Upon genetic testing, these two females were determined to have X-linked BCOR mutations confirming OFCD syndrome diagnoses. Conclusion. These case reports add support to the hypothesis that infantile hemangiomas may be a feature of OFCD. BCOR may potentially be within a pathway of genes involved in PHACE syndrome and/or in infantile hemangioma formation.http://dx.doi.org/10.1155/2019/9382640 |
| spellingShingle | T. M. Morgan J. M. Colazo L. Duncan R. Hamid K. M. Joos Two Cases of Oculofaciocardiodental (OFCD) Syndrome due to X-Linked BCOR Mutations Presenting with Infantile Hemangiomas: Phenotypic Overlap with PHACE Syndrome Case Reports in Genetics |
| title | Two Cases of Oculofaciocardiodental (OFCD) Syndrome due to X-Linked BCOR Mutations Presenting with Infantile Hemangiomas: Phenotypic Overlap with PHACE Syndrome |
| title_full | Two Cases of Oculofaciocardiodental (OFCD) Syndrome due to X-Linked BCOR Mutations Presenting with Infantile Hemangiomas: Phenotypic Overlap with PHACE Syndrome |
| title_fullStr | Two Cases of Oculofaciocardiodental (OFCD) Syndrome due to X-Linked BCOR Mutations Presenting with Infantile Hemangiomas: Phenotypic Overlap with PHACE Syndrome |
| title_full_unstemmed | Two Cases of Oculofaciocardiodental (OFCD) Syndrome due to X-Linked BCOR Mutations Presenting with Infantile Hemangiomas: Phenotypic Overlap with PHACE Syndrome |
| title_short | Two Cases of Oculofaciocardiodental (OFCD) Syndrome due to X-Linked BCOR Mutations Presenting with Infantile Hemangiomas: Phenotypic Overlap with PHACE Syndrome |
| title_sort | two cases of oculofaciocardiodental ofcd syndrome due to x linked bcor mutations presenting with infantile hemangiomas phenotypic overlap with phace syndrome |
| url | http://dx.doi.org/10.1155/2019/9382640 |
| work_keys_str_mv | AT tmmorgan twocasesofoculofaciocardiodentalofcdsyndromeduetoxlinkedbcormutationspresentingwithinfantilehemangiomasphenotypicoverlapwithphacesyndrome AT jmcolazo twocasesofoculofaciocardiodentalofcdsyndromeduetoxlinkedbcormutationspresentingwithinfantilehemangiomasphenotypicoverlapwithphacesyndrome AT lduncan twocasesofoculofaciocardiodentalofcdsyndromeduetoxlinkedbcormutationspresentingwithinfantilehemangiomasphenotypicoverlapwithphacesyndrome AT rhamid twocasesofoculofaciocardiodentalofcdsyndromeduetoxlinkedbcormutationspresentingwithinfantilehemangiomasphenotypicoverlapwithphacesyndrome AT kmjoos twocasesofoculofaciocardiodentalofcdsyndromeduetoxlinkedbcormutationspresentingwithinfantilehemangiomasphenotypicoverlapwithphacesyndrome |