Coarse metaphyseal trabecularization

MedGen UID:: 866612
•Concept ID:: C4020958
•: Anatomical Abnormality

Synonyms:	Coarse trabeculation at metaphyses; Rough bone trabeculation; Rough trabeculation of bone

HPO:	HP:0100670

Definition

Coarse appearance of the components of the network of osseous tissue that makes up the cancellous structure of a bone, i.e., thickening of the (usually fine) white lines that are produced by trabeculae in radiograms. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVCoarse metaphyseal trabecularization

Phenotypic abnormality
- Abnormality of the musculoskeletal system
  - Abnormality of the skeletal system
    - Abnormal skeletal morphology
      - Abnormal bone structure
        Abnormal trabecular bone morphology
        Coarse metaphyseal trabecularization

Conditions with this feature

Spondylometaphyseal dysplasia with corneal dystrophy

MedGen UID:: 1714019
•Concept ID:: C5394555
•: Disease or Syndrome

Spondylometaphyseal dysplasia with corneal dystrophy (SMDCD) is characterized by short stature due to short proximal and distal long bones. Affected individuals also exhibit narrow thorax with pulmonary hypoplasia and respiratory failure, as well as corneal dystrophy. Severe developmental delay has been observed (Ben-Salem et al., 2018).

See: Condition Record

Spondylometaphyseal dysplasia with corneal dystrophy

Recent clinical studies

Diagnosis

Lethal osteosclerotic skeletal dysplasia with intracellular inclusion bodies.

Brodie SG, Lachman RS, McGovern MM, Mekikian PB, Wilcox WR
Am J Med Genet 1999 Apr 23;83(5):372-7. doi: 10.1002/(sici)1096-8628(19990423)83:5<372::aid-ajmg6>3.0.co;2-j. PMID: 10232746

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