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Epiphyseal stippling of finger phalanges

MedGen UID:: 866948
•Concept ID:: C4021304
•: Anatomical Abnormality

Synonyms:	Speckled calcifications in end part of finger bones; Stippling of the epiphyses of the fingers; Stippling of the epiphyses of the phalanges of the hand

HPO:	HP:0010237

Definition

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

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVEpiphyseal stippling of finger phalanges

Phenotypic abnormality
- Abnormality of limbs
  - Abnormality of the upper limb
    - Abnormality of the hand
      - Abnormal hand morphology
        Abnormal hand bone ossification
        Epiphyseal stippling of finger phalanges
        Stippling of the epiphyses of the 2nd finger
        Stippling of the epiphyses of the 3rd finger
        Stippling of the epiphyses of the 4th finger
        Stippling of the epiphyses of the 5th finger
        Stippling of thumb epiphysis

Recent clinical studies

Etiology

Brachytelephalangic chondrodysplasia punctata: a case series to further delineate the phenotype.

Gupta N, Ghosh M, Shukla R, Das GP, Kabra M
Clin Dysmorphol 2012 Jul;21(3):113-117. doi: 10.1097/MCD.0b013e32835439cd. PMID: 22581171

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