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Bifid proximal phalanx of the thumb

MedGen UID:
869841
Concept ID:
C4024272
Congenital Abnormality
Synonym: Notched thumb bone
 
HPO: HP:0009614

Definition

This term applies if the proximal phalanx of the thumb is partially duplicated. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx) to a partially fused appearance of the two bones. 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  
  • CROGVBifid proximal phalanx of the thumb

Recent clinical studies

Etiology

Lapegue F, Tiercelin M, Siala M, Andre A, Rongieres M, Franchet C, Brouchet-Gomez A, Nougarolis F, Ricard C, Bachour R, Basselerie H, Chiavassa H, Faruch-Bilfeld M, Sans N
Eur Radiol 2020 Dec;30(12):6653-6662. Epub 2020 Jul 4 doi: 10.1007/s00330-020-07048-5. PMID: 32623504

Diagnosis

Inoue S, Ishii A, Shirotani G, Tsutsumi M, Ohta E, Nakamura M, Mori T, Inoue T, Nishimura G, Ogawa A, Hirose S
Pediatr Int 2014 Aug;56(4):e26-9. doi: 10.1111/ped.12383. PMID: 25252066

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