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

Branchio-oto (BO) syndrome and oculo-auriculo-vertebral phenotype: overlapping clinical findings in a child from a BO family.

Clinical genetics - 1 Jun 1996

Sensi A, Cocchi G, Martini A, Garani G, Trevisi P, Calzolari E

Abstract excerpt

A three-generation BO family is presented: the proband showed, in addition to branchio-oto malformations, a severe condition with growth retardation, mandibular hypoplasia and vertebral anomalies resembling the oculo-auriculo-vertebral (OAV) phenotype. This family study supports the hypothesis of Rollnick and Kaye that the OAV spectrum may represent, in some cases, an extreme component of the BOR syndrome. The...

Read the complete abstract on PubMed

Topics

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

Share to Abnormalities, Multiple
Share to Ear
Share to Eye Abnormalities

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

Share to Growth Disorders

Share to Phenotype

Share to Pregnancy

Share to Syndrome

Source

Identifiers

PMID: 8884078
DOI: 10.1111/j.1399-0004.1996.tb03792.x

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

Branchio-oto (BO) syndrome and oculo-auriculo-vertebral phenotype: overlapping clinical findings in a child from a BO family.PMID 8884078Read ↗

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

Oculo-auriculo-vertebral spectrum: new genes and literature review on a complex diseaseSemantic proximity Read ↗

Branchio-oculo-facial syndrome.Semantic proximity Read ↗

Phenotypic manifestations of branchio-oto-renal syndrome.Semantic proximity Read ↗

Hearing characterization in oculoauriculovertebral spectrum: A prospective study with 10 patients.Semantic proximity Read ↗

Stickler and branchio-oto-renal syndromes in a patient with mutations in EYA1 and COL2A1 genes.Semantic proximity Read ↗

Middle and inner ear malformations in mutation-proven branchio-oculo-facial (BOF) syndrome: case series and review of the literature.Semantic proximity Read ↗

New' manifestations of BOR syndrome.Semantic proximity Read ↗

Branchio-oto-renal syndrome.Semantic proximity Read ↗

Branchio-oto-renal syndrome.Semantic proximity Read ↗

Clinical and cytogenetic features of a Brazilian sample of patients with phenotype of oculo-auriculo-vertebral spectrum: a cross-sectional study.Semantic proximity Read ↗

Novel partial duplication of EYA1 causes branchiootic syndrome in a large Brazilian family.Semantic proximity Read ↗

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