Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Oculofaciocardiodental syndrome: a rare case and review of the literature.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association - 1 Sept 2012

Davoody Amirparviz, Chen I-Ping, Nanda Ravindra, Uribe Flavio, Reichenberger Ernst J

Abstract excerpt

Oculofaciocardiodental syndrome is a rare genetic disorder affecting ocular, facial, dental, and cardiac systems. The clinical diagnosis of oculofaciocardiodental syndrome can be challenging due to a wide variety of symptoms. Oculofaciocardiodental syndrome is found only in females due to its X-linked inheritance pattern and embryonic lethality for males. Radiculomegaly of canines is the most consistent finding...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cataract
Share to Cephalometry

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to BCOR gene

Share to Heart Septal Defects

Share to Microphthalmos

Share to Mutation

Share to Proto-Oncogene Proteins

Share to Repressor Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 21740180
DOI: 10.1597/10-256
PMCID: PMC3354011

Genes

BCOR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Oculofaciocardiodental syndrome: a rare case and review of the literature.PMID 21740180Read ↗

Anomalies of the Primary Dentition in Patients with Oculo-Facio-Cardio-Dental (OFCD) SyndromeSemantic proximity Read ↗

Dental abnormalities observed in the oculo-facio-cardio-dental (OFCD) syndrome present in two Czech families bearing novel de novo BCOR pathogenic variants.Semantic proximity Read ↗

Oculofaciocardiodental syndrome caused by a novel BCOR variantSemantic proximity Read ↗

Oculo-facio-cardio-dental (OFCD) syndromeSemantic proximity Read ↗

Rare dental abnormalities seen in oculo-facio-cardio-dental (OFCD) syndrome: three new cases and review of nine patients.Semantic proximity Read ↗

Oculo-facio-cardio-dental syndrome in three succeeding generations: genotypic data and phenotypic features.Semantic proximity Read ↗

A family of oculofaciocardiodental syndrome (OFCD) with a novel BCOR mutation and genomic rearrangements involving NHS.Semantic proximity Read ↗

Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR.Semantic proximity Read ↗

Oculo-auriculo-vertebral spectrum: a review of the literature and genetic update.Semantic proximity Read ↗

Novel BCOR mutation in a boy with Lenz microphthalmia/oculo-facio-cardio-dental (OFCD) syndromeSemantic proximity Read ↗

Expanding the phenotype of the X-linked BCOR microphthalmia syndromes.Semantic proximity Read ↗

A rare report of cardiofaciocutaneous syndrome and ulerythema ophryogenesSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.