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Absent humeral epiphyseal ossification

MedGen UID:
867349
•Concept ID:
C4021713
•
Anatomical Abnormality
Synonyms: Absent maturation of end part of long bone in upper arm; Absent ossification of the humeral epiphyses
 
HPO: HP:0003892

Definition

Lack of formation of bone in the epiphysis of the humerus. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbsent humeral epiphyseal ossification

Recent clinical studies

Etiology

Targeted expression of SHH affects chondrocyte differentiation, growth plate organization, and Sox9 expression.
Tavella S, Biticchi R, Schito A, Minina E, Di Martino D, Pagano A, Vortkamp A, Horton WA, Cancedda R, Garofalo S
J Bone Miner Res 2004 Oct;19(10):1678-88. Epub 2004 Jul 12 doi: 10.1359/JBMR.040706. PMID: 15355563

Clinical prediction guides

Skeletal abnormalities in the Apert syndrome.
Cohen MM Jr, Kreiborg S
Am J Med Genet 1993 Oct 1;47(5):624-32. doi: 10.1002/ajmg.1320470509. PMID: 8266987

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