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

[Radiologische Besonderheiten einer bilateral vererblichen Mikro-Epiphysendysplasie - deutliche Entität einer Skelettdysplasie].

RoFo : Fortschritte auf dem Gebiete der Rontgenstrahlen und der Nuklearmedizin - 1 Jul 2002

Mostert A K, Dijkstra P F, Van Horn J R, Jansen B R H, Heutink P, Lindhout D

Abstract excerpt

AIM: To prove that bilateral hereditary micro-epiphyseal dysplasia (BHMED), first described by Elsbach in 1959, is a distinct disorder radiologically as well as clinically, compared with multiple epiphyseal dysplasia (MED). MATERIAL AND METHODS: We used the data of the revised pedigree with 84 family members, performed a medical history, physical examination and made a radiological evaluation for defining a...

Read the complete abstract on PubMed

Topics

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

Share to Aged
Share to Bone and Bones

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

Share to Chromosome Aberrations

Share to Genes, Dominant

Share to Osteochondrodysplasias

Share to Pedigree

Share to Radiography

Share to Reproducibility of Results

Source

Identifiers

PMID: 12101480
DOI: 10.1055/s-2002-32693

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

[Radiologische Besonderheiten einer bilateral vererblichen Mikro-Epiphysendysplasie - deutliche Entität einer Skelettdysplasie].PMID 12101480Read ↗

Familial multiple epiphyseal dysplasia due to a matrilin-3 mutation: further delineation of the phenotype including 40 years follow-up.Semantic proximity Read ↗

Bilateral hereditary micro-epiphyseal dysplasia: further delineation of the phenotype with 40 years follow-up.Semantic proximity Read ↗

Multiple epiphyseal dysplasia: clinical and radiographic features, differential diagnosis and molecular basis.Semantic proximity Read ↗

[Clinical and radiologic study of hereditary diseases of the femoral epiphysis].Semantic proximity Read ↗

Multiple epiphyseal dysplasia--report of two families.Semantic proximity Read ↗

Further evidence for attenuated phenotype with variants in the BMPER gene causing DSD: Case report and literature review.Semantic proximity Read ↗

Diaphanospondylodysostosis: Full Case Report with Novel Pathogenic BMPER Mutation.Semantic proximity Read ↗

[Multiple epiphyseal dysplasia: skeletal dysplasia presenting as neuromuscular disease].Semantic proximity Read ↗

BMPER variants associated with a novel, attenuated subtype of diaphanospondylodysostosis.Semantic proximity Read ↗

Intrafamilial phenotypic variability in Engelmann disease (ED): are ED and Ribbing disease the same entity?Semantic proximity Read ↗

Symmetrical enchondromatosis is associated with duplication of 12p11.23 to 12p11.22 including PTHLH.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.