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Abnormality of the epiphysis of the proximal phalanx of the thumb

MedGen UID:
869824
Concept ID:
C4024254
Anatomical Abnormality
Synonym: Abnormality of end part of thumb innermost long bone
 
HPO: HP:0009663

Definition

This term applies if the epiphysis of the proximal phalanx of the thumb, which is located at the proximal end of the phalanx, does not appear in concordance with gender and age dependant norms as seen on x-rays. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormality of the epiphysis of the proximal phalanx of the thumb

Recent clinical studies

Etiology

Zuidam JM, Dees EE, Lequin MH, Hovius SE
J Hand Surg Am 2006 Sep;31(7):1183-8. doi: 10.1016/j.jhsa.2006.03.025. PMID: 16945724
Faivre L, Cormier-Daire V, Eliott AM, Field F, Munnich A, Maroteaux P, Le Merrer M, Lachman R
Am J Med Genet A 2004 Jan 1;124A(1):48-53. doi: 10.1002/ajmg.a.20440. PMID: 14679586

Diagnosis

Tian X, Chan P, Li A, Xiao J, Chen W, Chim H
J Hand Surg Am 2019 Oct;44(10):860-867. Epub 2019 Jun 17 doi: 10.1016/j.jhsa.2019.04.013. PMID: 31221518
Faivre L, Cormier-Daire V, Eliott AM, Field F, Munnich A, Maroteaux P, Le Merrer M, Lachman R
Am J Med Genet A 2004 Jan 1;124A(1):48-53. doi: 10.1002/ajmg.a.20440. PMID: 14679586
Shohat M, Lachman R, Gruber HE, Hsia YE, Golbus MS, Witt DR, Bodell A, Bryke CR, Hogge WA, Rimoin DL
Am J Med Genet 1994 Aug 1;52(1):9-18. doi: 10.1002/ajmg.1320520104. PMID: 7977470

Clinical prediction guides

Tian X, Chan P, Li A, Xiao J, Chen W, Chim H
J Hand Surg Am 2019 Oct;44(10):860-867. Epub 2019 Jun 17 doi: 10.1016/j.jhsa.2019.04.013. PMID: 31221518

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