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Metaphyseal dappling

MedGen UID:
866562
•Concept ID:
C4020907
•
Finding
Synonym: Dappled metaphyseal sclerosis
 
HPO: HP:0011860

Definition

The presence of spots or rounded patches of abnormally increased density of metaphyseal bone. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMetaphyseal dappling

Conditions with this feature

Spondyloepimetaphyseal dysplasia, Strudwick type
MedGen UID:
147134
•Concept ID:
C0700635
•
Finding
The Strudwick type of spondyloepimetaphyseal dysplasia (SEMD) is characterized by disproportionate short stature, pectus carinatum, and scoliosis, as well as dappled metaphyses (summary by Tiller et al., 1995).
See: Condition Record
Spondyloepimetaphyseal dysplasia, Strudwick type

Recent clinical studies

Etiology

Spondylometepiphyseal dysplasia, Strudwick type.
Anderson CE, Sillence DO, Lachman RS, Toomey K, Bull M, Dorst J, Rimoin DL
Am J Med Genet 1982 Nov;13(3):243-56. doi: 10.1002/ajmg.1320130304. PMID: 6817637

Diagnosis

Recurrent c.G1636A (p.G546S) mutation of COL2A1 in a Chinese family with skeletal dysplasia and different metaphyseal changes: a case report.
Chen J, Ma X, Zhou Y, Li G, Guo Q
BMC Pediatr 2017 Jul 24;17(1):175. doi: 10.1186/s12887-017-0930-9. PMID: 28738883Free PMC Article
Spondylometepiphyseal dysplasia, Strudwick type.
Anderson CE, Sillence DO, Lachman RS, Toomey K, Bull M, Dorst J, Rimoin DL
Am J Med Genet 1982 Nov;13(3):243-56. doi: 10.1002/ajmg.1320130304. PMID: 6817637

Clinical prediction guides

Spondylometepiphyseal dysplasia, Strudwick type.
Anderson CE, Sillence DO, Lachman RS, Toomey K, Bull M, Dorst J, Rimoin DL
Am J Med Genet 1982 Nov;13(3):243-56. doi: 10.1002/ajmg.1320130304. PMID: 6817637

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