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Epiphyseal stippling of the metacarpals

MedGen UID:: 867156
•Concept ID:: C4021514
•: Anatomical Abnormality

Synonyms:	Speckled calcifications in end part of the long bone of hand; Stippling of the epiphyses of the metacarpals

HPO:	HP:0009195

Definition

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

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVEpiphyseal stippling of the metacarpals

Phenotypic abnormality
- Abnormality of limbs
  - Abnormality of the upper limb
    - Abnormality of the hand
      - Abnormal hand morphology
        Abnormal hand bone ossification
        Epiphyseal stippling of the metacarpals

Recent clinical studies

Diagnosis

Di Sala syndrome.

Kumar M, Bhasker SK, Singh R, Kohli N, Kumar R
BMJ Case Rep 2012 Mar 20;2012 doi: 10.1136/bcr.12.2011.5291. PMID: 22605711 Free PMC Article

Therapy

Di Sala syndrome.

Kumar M, Bhasker SK, Singh R, Kohli N, Kumar R
BMJ Case Rep 2012 Mar 20;2012 doi: 10.1136/bcr.12.2011.5291. PMID: 22605711 Free PMC Article

Prognosis

Lissencephaly type III, stippled epiphyses and loose, thick skin: a new recessively inherited syndrome.

Plauchu H, Encha-Razavi F, Hermier M, Attia-Sobol J, Vitrey D, Verloes A
Am J Med Genet 2001 Feb 15;99(1):14-20. doi: 10.1002/1096-8628(20010215)99:1<14::aid-ajmg1121>3.0.co;2-s. PMID: 11170088

Supplemental Content

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Clinical resources

ClinicalTrials.gov

Consumer resources

MedlinePlus

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