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Distal ulnar epiphyseal stippling

MedGen UID:: 867241
•Concept ID:: C4021600
•: Finding

Synonym:	Distal ulnar epiphyseal calcifications

HPO:	HP:0006370

Definition

The presence of abnormal punctate (speckled, dot-like) calcifications in the distal epiphysis of the ulna. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVDistal ulnar epiphyseal stippling

Phenotypic abnormality
- Abnormality of limbs
  - Abnormality of the upper limb
    - Abnormal upper limb bone morphology
      - Abnormal forearm bone morphology
        Distal ulnar epiphyseal stippling

Conditions with this feature

Spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness

MedGen UID:: 355893
•Concept ID:: C1865022
•: Disease or Syndrome

See: Condition Record

Spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness

Recent clinical studies

Etiology

Spondylo-mega-epiphyseal dysplasia with prominent upper limb mesomelia, punctate calcifications, and deafness.

Agarwal VK, Lachman RS, Rimoin DL, Wilcox WR
Am J Med Genet A 2005 Jul 30;136(3):233-41. doi: 10.1002/ajmg.a.30805. PMID: 15954110

Prognosis

Spondylo-mega-epiphyseal dysplasia with prominent upper limb mesomelia, punctate calcifications, and deafness.

Agarwal VK, Lachman RS, Rimoin DL, Wilcox WR
Am J Med Genet A 2005 Jul 30;136(3):233-41. doi: 10.1002/ajmg.a.30805. PMID: 15954110

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