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

Genetics of patella hypoplasia/agenesis.

Clinical genetics - 1 Jul 2018

Vanlerberghe C, Boutry N, Petit F

Abstract excerpt

The patella is a sesamoid bone, crucial for knee stability. When absent or hypoplastic, recurrent knee subluxations, patellofemoral dysfunction and early gonarthrosis may occur. Patella hypoplasia/agenesis may be isolated or observed in syndromic conditions, either as the main clinical feature (Nail-patella syndrome, small patella syndrome), as a clue feature which can help diagnosis assessment, or as a...

Read the complete abstract on PubMed

Topics

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

Share to Bone Diseases, Developmental
Share to Diagnosis, Differential
Share to Genetic Association Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Multimodal Imaging

Share to Musculoskeletal Abnormalities

Share to Patella

Share to Syndrome

Source

Identifiers

PMID: 29322497
DOI: 10.1111/cge.13209

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetics of patella hypoplasia/agenesis.PMID 29322497Read ↗

Human syndromes with congenital patellar anomalies and the underlying gene defects.Semantic proximity Read ↗

Nail patella syndrome: a review of the phenotype aided by developmental biology.Semantic proximity Read ↗

Small patella syndrome.Semantic proximity Read ↗

Physiopathology of patello-femoral osteoarthritis: current concepts.Semantic proximity Read ↗

Down's syndrome associated with absent patellae: a case report.Semantic proximity Read ↗

Nail patella syndrome. A 55-year follow-up of the original description.Semantic proximity Read ↗

Arthrogryposis as a presenting feature of nail-patella syndrome: a lesser-known feature and the perils of negative whole-genome sequencing.Semantic proximity Read ↗

[Prenatal diagnosis and pedigree analysis of a case of Nail-patella syndrome].Semantic proximity Read ↗

Genitopatellar syndrome: a new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation.Semantic proximity Read ↗

Achondroplasia and nail-patella syndrome: the compound phenotype.Semantic proximity Read ↗

Multilayered patella: similar radiographic findings in pseudoachondroplasia and recessive multiple epiphyseal dysplasia.Semantic proximity Read ↗

Recessive multiple epiphyseal dysplasia (rMED) with homozygosity for C653S mutation in the DTDST gene--phenotype, molecular diagnosis and surgical treatment of habitual dislocation of multilayered patella: case report.Semantic proximity Read ↗

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