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Delayed upper limb epiphyseal ossification

MedGen UID:
871095
•Concept ID:
C4025560
•
Anatomical Abnormality
Synonym: Delayed maturation of the end part of the upper limb bone
 
HPO: HP:0003840

Definition

A delay in the process of formation and maturation of the epiphysis of one or more long bones of the upper limbs. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDelayed upper limb epiphyseal ossification

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
Angel-shaped phalanges in brachydactyly C: a case report, and speculation on pathogenesis.
Castriota-Scanderbeg A, Garaci FG, Beluffi G
Pediatr Radiol 2005 May;35(5):535-8. Epub 2004 Nov 23 doi: 10.1007/s00247-004-1362-x. PMID: 15565340

Diagnosis

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

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

Prognosis

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
Angel-shaped phalanges in brachydactyly C: a case report, and speculation on pathogenesis.
Castriota-Scanderbeg A, Garaci FG, Beluffi G
Pediatr Radiol 2005 May;35(5):535-8. Epub 2004 Nov 23 doi: 10.1007/s00247-004-1362-x. PMID: 15565340

Clinical prediction guides

Deletion of Trps1 regulatory elements recapitulates postnatal hip joint abnormalities and growth retardation of Trichorhinophalangeal syndrome in mice.
Saeki N, Inui-Yamamoto C, Ikeda Y, Kanai R, Hata K, Itoh S, Inubushi T, Akiyama S, Ohba S, Abe M
Hum Mol Genet 2024 Sep 3;33(18):1618-1629. doi: 10.1093/hmg/ddae102. PMID: 38899779
Staging of osteochondritis dissecans of the elbow based on pathologic progression in the partially detached articular fragment.
Takahara M, Uno T, Maruyama M, Harada M, Satake H, Takahara D, Takagi M
J Shoulder Elbow Surg 2022 Feb;31(2):391-401. Epub 2021 Aug 31 doi: 10.1016/j.jse.2021.08.006. PMID: 34478862
Progression of Epiphyseal Cartilage and Bone Pathology in Surgically Treated Cases of Osteochondritis Dissecans of the Elbow.
Takahara M, Maruyama M, Uno T, Harada M, Satake H, Takahara D, Takagi M
Am J Sports Med 2021 Jan;49(1):162-171. Epub 2020 Nov 16 doi: 10.1177/0363546520969423. PMID: 33196301
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
Craniofacial morphology, dentition, and skeletal maturity in four siblings with Seckel syndrome.
Kjaer I, Hansen N, Becktor KB, Birkebaek N, Balslev T
Cleft Palate Craniofac J 2001 Nov;38(6):645-51. doi: 10.1597/1545-1569_2001_038_0645_cmdasm_2.0.co_2. PMID: 11681999

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