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Small epiphyses of the metacarpals

MedGen UID:
870112
Concept ID:
C4024543
Anatomical Abnormality
Synonym: Small end part of the long bone of hand
 
HPO: HP:0009194

Definition

Abnormally small size of the epiphyses located at the distal end of the metacarpals in respect to age-dependent norms. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSmall epiphyses of the metacarpals

Professional guidelines

PubMed

Maas SM, Shaw AC, Bikker H, Lüdecke HJ, van der Tuin K, Badura-Stronka M, Belligni E, Biamino E, Bonati MT, Carvalho DR, Cobben J, de Man SA, Den Hollander NS, Di Donato N, Garavelli L, Grønborg S, Herkert JC, Hoogeboom AJ, Jamsheer A, Latos-Bielenska A, Maat-Kievit A, Magnani C, Marcelis C, Mathijssen IB, Nielsen M, Otten E, Ousager LB, Pilch J, Plomp A, Poke G, Poluha A, Posmyk R, Rieubland C, Silengo M, Simon M, Steichen E, Stumpel C, Szakszon K, Polonkai E, van den Ende J, van der Steen A, van Essen T, van Haeringen A, van Hagen JM, Verheij JB, Mannens MM, Hennekam RC
Eur J Med Genet 2015 May;58(5):279-92. Epub 2015 Mar 16 doi: 10.1016/j.ejmg.2015.03.002. PMID: 25792522

Recent clinical studies

Etiology

Kracoff SL
J Hand Surg Asian Pac Vol 2020 Mar;25(1):82-86. doi: 10.1142/S2424835520500113. PMID: 32000596
Yang YZ, Ma XH, Yang XH, Gu WZ, Jin WY, Zhao ZY
Pediatr Radiol 2018 Aug;48(8):1108-1112. Epub 2018 May 7 doi: 10.1007/s00247-018-4137-5. PMID: 29736770
Armour CM, Bulman DE, Hunter AG
J Med Genet 2000 Apr;37(4):292-6. doi: 10.1136/jmg.37.4.292. PMID: 10745048Free PMC Article
Wright TC, Dell PC
J Hand Surg Am 1991 May;16(3):540-4. doi: 10.1016/0363-5023(91)90029-b. PMID: 1861041
de Wijn EM, Steendijk R
Acta Paediatr Scand 1982 Jul;71(4):657-60. doi: 10.1111/j.1651-2227.1982.tb09492.x. PMID: 7136683

Diagnosis

Herlin LK, Herlin MK, Blechingberg J, Rønholt K, Graversen L, Schmidt SAJ, Jørgensen MW, Hellfritzsch MB, Hald JD, Beck-Nielsen SS, Gjørup H, Andersen BN, Gregersen PA, Sommerlund M
Eur J Med Genet 2024 Jun;69:104937. Epub 2024 Apr 2 doi: 10.1016/j.ejmg.2024.104937. PMID: 38574886
Simon M, Campos-Xavier AB, Mittaz-Crettol L, Valadares ER, Carvalho D, Speck-Martins CE, Nampoothiri S, Alanay Y, Mihci E, van Bever Y, Garcia-Segarra N, Cavalcanti D, Mortier G, Bonafé L, Superti-Furga A
Am J Med Genet C Semin Med Genet 2012 Aug 15;160C(3):230-7. Epub 2012 Jul 12 doi: 10.1002/ajmg.c.31339. PMID: 22791571
Slotcavage RL, Dickson BC, Ogilvie CM
Orthopedics 2009 Apr;32(4) PMID: 19388607
Konishi E, Okubo T, Itoi M, Katsumi Y, Murata H, Yanagisawa A
Orthopedics 2008 Apr;31(4):395. doi: 10.3928/01477447-20080401-20. PMID: 19292273
Torre BA
Hand Clin 1988 Feb;4(1):113-21. PMID: 3277975

Therapy

Kracoff SL
J Hand Surg Asian Pac Vol 2020 Mar;25(1):82-86. doi: 10.1142/S2424835520500113. PMID: 32000596
Moon JC, Kim SR, Lee YC, Chung MJ
Am J Med Sci 2012 Feb;343(2):171-173. doi: 10.1097/MAJ.0b013e31823483e1. PMID: 22157386

Prognosis

Herlin LK, Herlin MK, Blechingberg J, Rønholt K, Graversen L, Schmidt SAJ, Jørgensen MW, Hellfritzsch MB, Hald JD, Beck-Nielsen SS, Gjørup H, Andersen BN, Gregersen PA, Sommerlund M
Eur J Med Genet 2024 Jun;69:104937. Epub 2024 Apr 2 doi: 10.1016/j.ejmg.2024.104937. PMID: 38574886
Yune S, Lee H, Kim M, Tajmir SH, Gee MS, Do S
J Digit Imaging 2019 Aug;32(4):665-671. doi: 10.1007/s10278-018-0148-x. PMID: 30478479Free PMC Article
Simon M, Campos-Xavier AB, Mittaz-Crettol L, Valadares ER, Carvalho D, Speck-Martins CE, Nampoothiri S, Alanay Y, Mihci E, van Bever Y, Garcia-Segarra N, Cavalcanti D, Mortier G, Bonafé L, Superti-Furga A
Am J Med Genet C Semin Med Genet 2012 Aug 15;160C(3):230-7. Epub 2012 Jul 12 doi: 10.1002/ajmg.c.31339. PMID: 22791571
Konishi E, Okubo T, Itoi M, Katsumi Y, Murata H, Yanagisawa A
Orthopedics 2008 Apr;31(4):395. doi: 10.3928/01477447-20080401-20. PMID: 19292273
Sanders JO, Khoury JG, Kishan S, Browne RH, Mooney JF 3rd, Arnold KD, McConnell SJ, Bauman JA, Finegold DN
J Bone Joint Surg Am 2008 Mar;90(3):540-53. doi: 10.2106/JBJS.G.00004. PMID: 18310704

Clinical prediction guides

Yune S, Lee H, Kim M, Tajmir SH, Gee MS, Do S
J Digit Imaging 2019 Aug;32(4):665-671. doi: 10.1007/s10278-018-0148-x. PMID: 30478479Free PMC Article
Yang YZ, Ma XH, Yang XH, Gu WZ, Jin WY, Zhao ZY
Pediatr Radiol 2018 Aug;48(8):1108-1112. Epub 2018 May 7 doi: 10.1007/s00247-018-4137-5. PMID: 29736770
Simon M, Campos-Xavier AB, Mittaz-Crettol L, Valadares ER, Carvalho D, Speck-Martins CE, Nampoothiri S, Alanay Y, Mihci E, van Bever Y, Garcia-Segarra N, Cavalcanti D, Mortier G, Bonafé L, Superti-Furga A
Am J Med Genet C Semin Med Genet 2012 Aug 15;160C(3):230-7. Epub 2012 Jul 12 doi: 10.1002/ajmg.c.31339. PMID: 22791571
Sanders JO, Khoury JG, Kishan S, Browne RH, Mooney JF 3rd, Arnold KD, McConnell SJ, Bauman JA, Finegold DN
J Bone Joint Surg Am 2008 Mar;90(3):540-53. doi: 10.2106/JBJS.G.00004. PMID: 18310704
Houshian S, Ipsen T
J Hand Surg Br 2001 Feb;26(1):13-6. doi: 10.1054/jhsb.2000.0478. PMID: 11162007

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