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

Dyggve-Melchior-Clausen syndrome: report of seven patients with the Smith-McCort variant and review of the literature.

Journal of pediatric orthopedics - 1 Jan 2000

Burns Catherine, Powell Berkley R, Hsia Y Edward, Reinker Kent

Abstract excerpt

Dyggve-Melchior-Clausen (DMC) syndrome is a rare autosomal recessive disorder affecting skeletal development. The patients have a striking "barrel-shape" chest, shortened trunk, and various distal deformities, including genu valgum or varum, and minimal decrease in joint mobility. The most notabl...

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 Bone Diseases, Developmental
Share to Growth Disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Intellectual Disability

Share to Joint Instability

Share to Lumbar Vertebrae

Share to Radiography

Share to Sampling Studies

Source

Identifiers

PMID: 12499951

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-12499951-2026-09-02.2. 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

Dyggve-Melchior-Clausen syndrome: report of seven patients with the Smith-McCort variant and review of the literature.PMID 12499951Read ↗

Dyggve-Melchior-Clausen syndrome: novel splice mutation with atlanto-axial subluxation.Semantic proximity Read ↗

Atypical presentation of Dyggve-Melchior-Clausen disease in a Moroccan child without developmental delay and intellectual disabilities.Semantic proximity Read ↗

Dyggve-Melchior-Clausen syndrome and Smith-McCort dysplasia: clinical and molecular findings in three families supporting genetic heterogeneity in Smith-McCort dysplasia.Semantic proximity Read ↗

Dyggve-Melchior-Clausen syndrome in three siblings: a unique case series with dual diagnosis of Down syndrome and Hirschsprung disease.Semantic proximity Read ↗

Recent advances in Dyggve-Melchior-Clausen syndrome.Semantic proximity Read ↗

Novel mutation and atlantoaxial dislocation in two siblings from India with Dyggve-Melchior-Clausen syndrome.Semantic proximity Read ↗

Further defining the molecular spectrum and long-term follow-up of 17 patients with Dyggve-Melchior-Clausen and Smith-McCort dysplasia type 2.Semantic proximity Read ↗

Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene.Semantic proximity Read ↗

[Dyggve-Melchior-Clausen syndrome: presentation of a case with a mutation of possible Spanish origin].Semantic proximity Read ↗

Clinical, radiological and molecular studies in 24 individuals with Dyggve-Melchior-Clausen dysplasia and Smith-McCort dysplasia from India.Semantic proximity Read ↗

Revisiting metatropic dysplasia: Presentation of a series of 19 novel patients and review of the literatureSemantic proximity Read ↗

Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment.Semantic proximity Read ↗

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