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

Congenital stapes ankylosis, broad thumbs, and hyperopia: report of a family and refinement of a syndrome.

American journal of medical genetics - 19 Feb 1999

Milunsky J, Suntra C, MacDonald C B

Abstract excerpt

We report on a family with conductive hearing loss due to congenital stapes ankylosis, and with hyperopia, broad thumbs, and broad first toes. Neither of the studied relatives had symphalangism, possibly distinguishing this syndrome as an entity separate from the facio-audio-symphalangism and proximal symphalangism syndromes. An alternative possibility is that this family falls within the spectrum of the...

Read the complete abstract on PubMed

Topics

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

Share to Audiometry
Share to Brain
Share to Child

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

Share to Genotype

Share to Pedigree

Share to Phenotype

Share to Tomography, X-Ray Computed

Source

Identifiers

PMID: 10069712

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

Congenital stapes ankylosis, broad thumbs, and hyperopia: report of a family and refinement of a syndrome.PMID 10069712Read ↗

Congenital stapes malformation: Rare conductive hearing loss in a patient with Waardenburg syndrome.Semantic proximity Read ↗

Stickler syndrome type I and Stapes ankylosis.Semantic proximity Read ↗

Stapes ankylosis in a family with a novel NOG mutation: otologic features of the facioaudiosymphalangism syndrome.Semantic proximity Read ↗

Otosclerosis or congenital stapes ankylosis? The diagnostic role of genetic analysis.Semantic proximity Read ↗

Char syndrome: a new family and review of the literature emphasising the presence of symphalangism and the variable phenotype.Semantic proximity Read ↗

Characterization of a stapes ankylosis family with a NOG mutation.Semantic proximity Read ↗

Is the Conductive Hearing Loss in NOG-Related Symphalangism Spectrum Disorder Congenital?Semantic proximity Read ↗

Association of external auditory canal atresia, vertical talus, and hypertelorism: confirmation of Rasmussen syndrome.Semantic proximity Read ↗

Autosomal dominant stapes ankylosis with broad thumbs and toes, hyperopia, and skeletal anomalies is caused by heterozygous nonsense and frameshift mutations in NOG, the gene encoding noggin.Semantic proximity Read ↗

How to prevent a stapes gusher.Semantic proximity Read ↗

Identification of two novel mutations in the NOG gene associated with congenital stapes ankylosis and symphalangism.Semantic proximity Read ↗

Autosomal dominant stapes fixation, syndactyly, and symphalangism in a family with NOG mutation: Long term follow-up on surgical treatment.Semantic proximity Read ↗

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