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

Otolaryngological manifestations of cleidocranial dysplasia, concentrating on audiological findings.

The Laryngoscope - 1 Sept 2003

Visosky Ann Marie B, Johnson Jacob, Bingea Becky, Gurney Theresa, Lalwani Anil K

Abstract excerpt

OBJECTIVES/HYPOTHESIS: Cleidocranial dysplasia is an autosomal dominant skeletal syndrome characterized by open skull sutures and clavicular hypoplasia or aplasia. It results from mutations in the transcription factor CBFA1 required for osteoblast differentiation and normal bone formation. Therefore, mutations in CBFA1 would be expected to cause conductive or sensorineural hearing loss, or both. The objective of...

Read the complete abstract on PubMed

Topics

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

Share to Audiometry, Pure-Tone
Share to Auditory Threshold

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosome Aberrations

Share to Chromosomes, Human, Pair 6

Share to Cleidocranial Dysplasia

Share to Core Binding Factor Alpha 1 Subunit

Share to Hearing Loss, Conductive

Share to Hearing Loss, Sensorineural

Source

Identifiers

PMID: 12972925
DOI: 10.1097/00005537-200309000-00017

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Otolaryngological manifestations of cleidocranial dysplasia, concentrating on audiological findings.PMID 12972925Read ↗

[Anomalies of the skull in cleidocranial dysplasia].Semantic proximity Read ↗

Craniofacial features of cleidocranial dysplasiaSemantic proximity Read ↗

Oculoauriculofrontonasal syndrome: case series revealing new bony nasal anomalies in an old syndrome.Semantic proximity Read ↗

Cleidocranial Dysplasia: Management of the Multiple Craniofacial and Skeletal Anomalies.Semantic proximity Read ↗

[Symptoms and signs in cleidocranial dysplasia (CCD)].Semantic proximity Read ↗

Evidence of intrafamilial variability of CBFA1/RUNX2 expression in cleidocranial dysplasia--a family study.Semantic proximity Read ↗

A Diagnostic Conundrum: Ectopic Nasal Ossification, Submucosal Alveolar Cleft, Absent Posterior Atlantal Arch, and Corpus Callosum Lipoma.Semantic proximity Read ↗

Evidence that AEC syndrome and Bowen--Armstrong syndrome are variable expressions of the same disease.Semantic proximity Read ↗

Sensorineural hearing loss and hypoplastic cochlea in Axenfeld-Rieger syndrome with FOXC1 mutation.Semantic proximity Read ↗

Cleidocranial dysplasia: a family report.Semantic proximity Read ↗

Hearing and otopathology in Crouzon syndrome.Semantic proximity Read ↗

Hyperbrachycephaly, short face, midface hypoplasia, fusion of cervical vertebrae, radiolucent bone defects, and severe destruction of periodontium--a new syndrome: craniofaciocervical osteoglyphic dysplasia.Semantic proximity Read ↗

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