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Abnormal morphology of the radius

MedGen UID:
871198
•Concept ID:
C4025675
•
Anatomical Abnormality
Synonym: Abnormality of the radius
 
HPO: HP:0002818

Definition

An abnormality of the radius. [from HPO]

Professional guidelines

PubMed

Two-stage treatment of extremity deformities associated with thrombocytopenia-absent radius syndrome.
Akdemir M, Biçen Ç, Özkan M
Acta Orthop Traumatol Turc 2022 Nov;56(6):366-371. doi: 10.5152/j.aott.2022.21397. PMID: 36567538Free PMC Article
A genotype and phenotype analysis of SMAD6 mutant patients with radioulnar synostosis.
Shen F, Yang Y, Li P, Zheng Y, Luo Z, Fu Y, Zhu G, Mei H, Chen S, Zhu Y
Mol Genet Genomic Med 2022 Jan;10(1):e1850. Epub 2021 Dec 24 doi: 10.1002/mgg3.1850. PMID: 34953066Free PMC Article
Management of posttraumatic radioulnar synostosis.
Bergeron SG, Desy NM, Bernstein M, Harvey EJ
J Am Acad Orthop Surg 2012 Jul;20(7):450-8. doi: 10.5435/JAAOS-20-07-450. PMID: 22751164

Recent clinical studies

Etiology

The corneoscleral shape in Marfan syndrome.
Vanhonsebrouck E, Consejo A, Coucke PJ, Leroy BP, Kreps EO
Acta Ophthalmol 2021 Jun;99(4):405-410. Epub 2020 Sep 30 doi: 10.1111/aos.14636. PMID: 32996688
Oligodactyly with Thumb.
Baek GH, Kim J
J Hand Surg Asian Pac Vol 2016 Oct;21(3):283-91. doi: 10.1142/S2424835516400087. PMID: 27595943
Management of posttraumatic radioulnar synostosis.
Bergeron SG, Desy NM, Bernstein M, Harvey EJ
J Am Acad Orthop Surg 2012 Jul;20(7):450-8. doi: 10.5435/JAAOS-20-07-450. PMID: 22751164
Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes.
Rosenfeld JA, Traylor RN, Schaefer GB, McPherson EW, Ballif BC, Klopocki E, Mundlos S, Shaffer LG, Aylsworth AS; 1q21.1 Study Group
Eur J Hum Genet 2012 Jul;20(7):754-61. Epub 2012 Feb 8 doi: 10.1038/ejhg.2012.6. PMID: 22317977Free PMC Article
Ulnar dysmelia.
Ogden JA, Watson HK, Bohne W
J Bone Joint Surg Am 1976 Jun;58(4):467-75. PMID: 818089

Diagnosis

Congenital Radioulnar Synostosis.
Rutkowski PT, Samora JB
J Am Acad Orthop Surg 2021 Jul 1;29(13):563-570. doi: 10.5435/JAAOS-D-20-01133. PMID: 33826558
Thrombocytopenia-absent radius syndrome.
Toriello HV
Semin Thromb Hemost 2011 Sep;37(6):707-12. Epub 2011 Nov 18 doi: 10.1055/s-0031-1291381. PMID: 22102274
VACTERL/VATER Association.
Solomon BD
Orphanet J Rare Dis 2011 Aug 16;6:56. doi: 10.1186/1750-1172-6-56. PMID: 21846383Free PMC Article
Generalized skeletal abnormalities.
Watt AJ, Chung KC
Hand Clin 2009 May;25(2):265-76. doi: 10.1016/j.hcl.2008.12.008. PMID: 19380065
Radial longitudinal deficiency.
Maschke SD, Seitz W, Lawton J
J Am Acad Orthop Surg 2007 Jan;15(1):41-52. doi: 10.5435/00124635-200701000-00005. PMID: 17213381

Therapy

Radial Ray Malformation.
Society for Maternal-Fetal Medicine (SMFM), Gandhi M, Rac MWF, McKinney J
Am J Obstet Gynecol 2019 Dec;221(6):B16-B18. doi: 10.1016/j.ajog.2019.09.024. PMID: 31787159
Correction of "Wrist" Deformity in Radial Dysplasia: A Systematic Review and Meta-Analysis.
Murphy GRF, Logan MPO, Smith G, Sivakumar B, Smith P
J Bone Joint Surg Am 2017 Dec 20;99(24):2120-2126. doi: 10.2106/JBJS.17.00164. PMID: 29257019Free PMC Article
The impact of different types of talus deformation after treatment of clubfeet.
Kolb A, Willegger M, Schuh R, Kaider A, Chiari C, Windhager R
Int Orthop 2017 Jan;41(1):93-99. Epub 2016 Oct 11 doi: 10.1007/s00264-016-3301-5. PMID: 27730290
Underlying genetic factors of the VATER/VACTERL association with special emphasis on the "Renal" phenotype.
Reutter H, Hilger AC, Hildebrandt F, Ludwig M
Pediatr Nephrol 2016 Nov;31(11):2025-33. Epub 2016 Feb 8 doi: 10.1007/s00467-016-3335-3. PMID: 26857713Free PMC Article
Phenocopies.
Lenz W
J Med Genet 1973 Mar;10(1):34-49. doi: 10.1136/jmg.10.1.34. PMID: 4354695Free PMC Article

Prognosis

The corneoscleral shape in Marfan syndrome.
Vanhonsebrouck E, Consejo A, Coucke PJ, Leroy BP, Kreps EO
Acta Ophthalmol 2021 Jun;99(4):405-410. Epub 2020 Sep 30 doi: 10.1111/aos.14636. PMID: 32996688
Complex Monteggia Fractures in the Adult Cohort: Injury and Management.
Kim JM, London DA
J Am Acad Orthop Surg 2020 Oct 1;28(19):e839-e848. doi: 10.5435/JAAOS-D-19-00625. PMID: 32649440
VACTERL/VATER Association.
Solomon BD
Orphanet J Rare Dis 2011 Aug 16;6:56. doi: 10.1186/1750-1172-6-56. PMID: 21846383Free PMC Article
Radioulnar synostosis.
Sachar K, Akelman E, Ehrlich MG
Hand Clin 1994 Aug;10(3):399-404. PMID: 7962146
Ulnar dysmelia.
Ogden JA, Watson HK, Bohne W
J Bone Joint Surg Am 1976 Jun;58(4):467-75. PMID: 818089

Clinical prediction guides

Congenital Radioulnar Synostosis.
Rutkowski PT, Samora JB
J Am Acad Orthop Surg 2021 Jul 1;29(13):563-570. doi: 10.5435/JAAOS-D-20-01133. PMID: 33826558
Clinical and molecular characterization of four patients with Robinow syndrome from different families.
Rai A, Patil SJ, Srivastava P, Gaurishankar K, Phadke SR
Am J Med Genet A 2021 Apr;185(4):1105-1112. Epub 2021 Jan 26 doi: 10.1002/ajmg.a.62082. PMID: 33496066
Oligodactyly with Thumb.
Baek GH, Kim J
J Hand Surg Asian Pac Vol 2016 Oct;21(3):283-91. doi: 10.1142/S2424835516400087. PMID: 27595943
The Baller-Gerold syndrome.
Van Maldergem L, Verloes A, Lejeune L, Gillerot Y
J Med Genet 1992 Apr;29(4):266-8. doi: 10.1136/jmg.29.4.266. PMID: 1583650Free PMC Article
Ulnar dysmelia.
Ogden JA, Watson HK, Bohne W
J Bone Joint Surg Am 1976 Jun;58(4):467-75. PMID: 818089

Recent systematic reviews

Results after treatment of congenital radioulnar synostosis: a systematic review and pooled data analysis.
Barik S, Farr S, Gallone G, Zarantonello P, Trisolino G, Di Gennaro GL
J Pediatr Orthop B 2021 Nov 1;30(6):593-600. doi: 10.1097/BPB.0000000000000841. PMID: 33315801Free PMC Article
Correction of "Wrist" Deformity in Radial Dysplasia: A Systematic Review and Meta-Analysis.
Murphy GRF, Logan MPO, Smith G, Sivakumar B, Smith P
J Bone Joint Surg Am 2017 Dec 20;99(24):2120-2126. doi: 10.2106/JBJS.17.00164. PMID: 29257019Free PMC Article
Neglected Monteggia fracture dislocations in children: a systematic review.
Goyal T, Arora SS, Banerjee S, Kandwal P
J Pediatr Orthop B 2015 May;24(3):191-9. doi: 10.1097/BPB.0000000000000147. PMID: 25714935
Systematic review: functional outcomes and complications of intramedullary nailing versus plate fixation for both-bone diaphyseal forearm fractures in children.
Patel A, Li L, Anand A
Injury 2014 Aug;45(8):1135-43. Epub 2014 May 2 doi: 10.1016/j.injury.2014.04.020. PMID: 24845408
Clinical prevalence of palmaris longus agenesis: a systematic review and meta-analysis.
Yammine K
Clin Anat 2013 Sep;26(6):709-18. Epub 2013 Jul 3 doi: 10.1002/ca.22289. PMID: 23825029

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