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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

Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.
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

Radiographic Characteristics of the Hand in Apert Syndrome.
Kracoff SL
J Hand Surg Asian Pac Vol 2020 Mar;25(1):82-86. doi: 10.1142/S2424835520500113. PMID: 32000596
Phalangeal microgeodic syndrome in childhood.
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
Clinical and radiological assessment of a family with mild brachydactyly type A1: the usefulness of metacarpophalangeal profiles.
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
Avascular necrosis and vascular anatomy of the metacarpals.
Wright TC, Dell PC
J Hand Surg Am 1991 May;16(3):540-4. doi: 10.1016/0363-5023(91)90029-b. PMID: 1861041
Growth and development in a girl with pseudohypoparathyroidism and hypothyroidism. A longitudinal study.
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

Intraosseous Ganglia: a series of 17 treated cases.
Sakamoto A, Oda Y, Iwamoto Y
Biomed Res Int 2013;2013:462730. Epub 2013 Jun 13 doi: 10.1155/2013/462730. PMID: 23841071Free PMC Article
Severe neurologic manifestations from cervical spine instability in spondylo-megaepiphyseal-metaphyseal dysplasia.
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
A distinct form of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL)-leptodactylic type: radiological characteristics in seven new patients.
Kim OH, Cho TJ, Song HR, Chung CY, Miyagawa S, Nishimura G, Superti-Furga A, Unger S
Skeletal Radiol 2009 Aug;38(8):803-11. Epub 2009 Mar 11 doi: 10.1007/s00256-009-0671-4. PMID: 19277648
A description of the Omo I postcranial skeleton, including newly discovered fossils.
Pearson OM, Royer DF, Grine FE, Fleagle JG
J Hum Evol 2008 Sep;55(3):421-37. Epub 2008 Aug 8 doi: 10.1016/j.jhevol.2008.05.018. PMID: 18691733
Epiphyseal injuries in the small joints of the hand.
Torre BA
Hand Clin 1988 Feb;4(1):113-21. PMID: 3277975

Therapy

Radiographic Characteristics of the Hand in Apert Syndrome.
Kracoff SL
J Hand Surg Asian Pac Vol 2020 Mar;25(1):82-86. doi: 10.1142/S2424835520500113. PMID: 32000596
Multiple pulmonary metastases from giant cell tumor of a hand.
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

Beyond Human Perception: Sexual Dimorphism in Hand and Wrist Radiographs Is Discernible by a Deep Learning Model.
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
Severe neurologic manifestations from cervical spine instability in spondylo-megaepiphyseal-metaphyseal dysplasia.
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
Chondroblastoma of trapezium with metacarpal involvement.
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
A description of the Omo I postcranial skeleton, including newly discovered fossils.
Pearson OM, Royer DF, Grine FE, Fleagle JG
J Hum Evol 2008 Sep;55(3):421-37. Epub 2008 Aug 8 doi: 10.1016/j.jhevol.2008.05.018. PMID: 18691733
Predicting scoliosis progression from skeletal maturity: a simplified classification during adolescence.
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

Beyond Human Perception: Sexual Dimorphism in Hand and Wrist Radiographs Is Discernible by a Deep Learning Model.
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
Phalangeal microgeodic syndrome in childhood.
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
Severe neurologic manifestations from cervical spine instability in spondylo-megaepiphyseal-metaphyseal dysplasia.
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
Predicting scoliosis progression from skeletal maturity: a simplified classification during adolescence.
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
Metacarpal and phalangeal lengthening by callus distraction.
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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