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

Chondrodysplasia punctata: case report and review of audiological and ENT features.

The Journal of laryngology and otology - 1 Mar 2006

Murdin L, Sirimanna T, Hartley B E, Holder S E

Abstract excerpt

Chondrodysplasia punctata is a term referring to a clinically heterogeneous group of bone and cartilage dysplasias which cause characteristic epiphyseal stippling. The condition can involve the ear, nose and throat in diverse ways at many levels. We present a case of X-linked brachytelephalangic...

Read the complete abstract on PubMed

Topics

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

Share to Phenotype
Share to Bronchoscopy
Share to Chondrodysplasia Punctata

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genes, X-Linked

Share to Infant

Source

Identifiers

PMID: 16359148
DOI: 10.1017/S002221510500472X

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-16359148-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Chondrodysplasia punctata: case report and review of audiological and ENT features.PMID 16359148Read ↗

Brachytelephalangic chondrodysplasia punctata: a case series to further delineate the phenotype.Semantic proximity Read ↗

Brachytelephalangic chondrodysplasia punctata: a case series to further delineate the phenotype: note of concern.Semantic proximity Read ↗

Brachytelephalangic chondrodysplasia punctata with distinctive phenotype and normal karyotype.Semantic proximity Read ↗

Severe nasomaxillary hypoplasia (Binder phenotype) on prenatal US/MRI: an important marker for the prenatal diagnosis of chondrodysplasia punctata.Semantic proximity Read ↗

Rhizomelic chondrodysplasia punctata type 1 and fulminant neonatal respiratory failure, a case report and discussion of pathophysiology.Semantic proximity Read ↗

Neonatal Rhizomelic Chondrodysplasia Punctata Type 1: Weaving Evidence Into Clinical Practice.Semantic proximity Read ↗

Fetus with an unusual form of nonrhizomelic chondrodysplasia punctata: case report and review.Semantic proximity Read ↗

Fetal Chondrodysplasia Punctata: A Clinical Study of Five CasesSemantic proximity Read ↗

Chondrodysplasia Punctata and Maternal Autoimmune Disease: A New Case and Review of the LiteratureSemantic proximity Read ↗

Maternal systemic lupus erythematosus and chondrodysplasia punctata in two sibs: phenocopy or coincidence?Semantic proximity Read ↗

Long term follow-up of two sibs with an autosomal recessive form of chrondrodysplasia punctata and epilepsy.Semantic proximity Read ↗

Binder syndrome.Semantic proximity Read ↗

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