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Anomaly of the upper limb diaphyses

MedGen UID:
867031
•Concept ID:
C4021389
•
Anatomical Abnormality
Synonyms: Abnormality involving the diaphyses of the upper limbs; Abnormality of shaft of long bone of the upper limbs; Diaphyseal abnormality of the upper limbs
 
HPO: HP:0009808

Definition

A structural abnormality of a diaphysis of the arm. [from HPO]

Recent clinical studies

Etiology

Defining shoulder function and dysplasia in patients with longitudinal deficiencies of the upper limb.
Farr S, Jauker F, Ganger R
J Shoulder Elbow Surg 2024 Jan;33(1):e21-e30. Epub 2023 Jun 26 doi: 10.1016/j.jse.2023.05.025. PMID: 37379966
Clinical Manifestations of Constriction Band Syndrome.
Demetri LRF, Starcevich AG, Manske MCB, James MA
J Bone Joint Surg Am 2022 Jul 20;104(14):1301-1310. Epub 2022 Apr 14 doi: 10.2106/JBJS.21.01286. PMID: 35856931
Growth of the New Thumb Metacarpal After Pollicization for Thumb Hypoplasia.
Tonkin MA, Trist ND, van der Spuy DJ, Yoon A, Singh HP, Lawson RD
J Hand Surg Am 2018 Jan;43(1):83.e1-83.e6. Epub 2017 Sep 14 doi: 10.1016/j.jhsa.2017.08.001. PMID: 28917547
Achondroplasia: Really rhizomelic?
Shelmerdine SC, Brittain H, Arthurs OJ, Calder AD
Am J Med Genet A 2016 Aug;170(8):2039-43. Epub 2016 Jun 3 doi: 10.1002/ajmg.a.37776. PMID: 27257098
Rotational osteotomy at the diaphysis of the radius in the treatment of congenital radioulnar synostosis.
Fujimoto M, Kato H, Minami A
J Pediatr Orthop 2005 Sep-Oct;25(5):676-9. doi: 10.1097/01.bpo.0000161833.57409.bb. PMID: 16199954

Diagnosis

Clinical Manifestations of Constriction Band Syndrome.
Demetri LRF, Starcevich AG, Manske MCB, James MA
J Bone Joint Surg Am 2022 Jul 20;104(14):1301-1310. Epub 2022 Apr 14 doi: 10.2106/JBJS.21.01286. PMID: 35856931
Achondroplasia: Really rhizomelic?
Shelmerdine SC, Brittain H, Arthurs OJ, Calder AD
Am J Med Genet A 2016 Aug;170(8):2039-43. Epub 2016 Jun 3 doi: 10.1002/ajmg.a.37776. PMID: 27257098
Kashin-Beck disease in children: radiographic findings in the wrist.
Yu W, Wang Y, Jiang Y, Cheng X, Wang L, Genant K
Skeletal Radiol 2002 Apr;31(4):222-5. Epub 2002 Feb 20 doi: 10.1007/s00256-002-0475-2. PMID: 11904690
Brief communication: a case of congenital syphilis during the colonial period in Mexico City.
Mansilla J, Pijoan CM
Am J Phys Anthropol 1995 Jun;97(2):187-95. doi: 10.1002/ajpa.1330970208. PMID: 7653507
Correlative roentgenography and morphology of the longitudinal epiphyseal bracket.
Ogden JA, Light TR, Conlogue GJ
Skeletal Radiol 1981;6(2):109-17. doi: 10.1007/BF00347572. PMID: 7256305

Therapy

Musculoskeletal analyses of the forearm in young women with Turner syndrome: a study using peripheral quantitative computed tomography.
Bechtold S, Rauch F, Noelle V, Donhauser S, Neu CM, Schoenau E, Schwarz HP
J Clin Endocrinol Metab 2001 Dec;86(12):5819-23. doi: 10.1210/jcem.86.12.8063. PMID: 11739445

Prognosis

Clinical Manifestations of Constriction Band Syndrome.
Demetri LRF, Starcevich AG, Manske MCB, James MA
J Bone Joint Surg Am 2022 Jul 20;104(14):1301-1310. Epub 2022 Apr 14 doi: 10.2106/JBJS.21.01286. PMID: 35856931
Rotational osteotomy at the diaphysis of the radius in the treatment of congenital radioulnar synostosis.
Fujimoto M, Kato H, Minami A
J Pediatr Orthop 2005 Sep-Oct;25(5):676-9. doi: 10.1097/01.bpo.0000161833.57409.bb. PMID: 16199954
The fetal arm: individualized growth assessment in normal pregnancies.
Lee W, Deter RL, McNie B, Gonçalves LF, Espinoza J, Chaiworapongsa T, Balasubramaniam M, Romero R
J Ultrasound Med 2005 Jun;24(6):817-28. PMID: 15914686

Clinical prediction guides

Acceptable range of forearm deformity derived from relation to three-dimensional analysis and clinical impairments.
Shiode R, Miyamura S, Kazui A, Iwahashi T, Tanaka H, Okada S, Murase T, Oka K
J Orthop Res 2024 Jul;42(7):1509-1518. Epub 2024 Feb 28 doi: 10.1002/jor.25805. PMID: 38414415
Defining shoulder function and dysplasia in patients with longitudinal deficiencies of the upper limb.
Farr S, Jauker F, Ganger R
J Shoulder Elbow Surg 2024 Jan;33(1):e21-e30. Epub 2023 Jun 26 doi: 10.1016/j.jse.2023.05.025. PMID: 37379966
Achondroplasia: Really rhizomelic?
Shelmerdine SC, Brittain H, Arthurs OJ, Calder AD
Am J Med Genet A 2016 Aug;170(8):2039-43. Epub 2016 Jun 3 doi: 10.1002/ajmg.a.37776. PMID: 27257098
Van Buchem disease: lifetime evolution of radioclinical features.
Vanhoenacker FM, Balemans W, Tan GJ, Dikkers FG, De Schepper AM, Mathysen DG, Bernaerts A, Hul WV
Skeletal Radiol 2003 Dec;32(12):708-18. Epub 2003 Oct 1 doi: 10.1007/s00256-003-0675-4. PMID: 14520501
MODED: microcephaly-oculo-digito-esophageal-duodenal syndrome.
Frydman M, Katz M, Cabot SG, Soen G, Kauschansky A, Sirota L
Am J Med Genet 1997 Aug 22;71(3):251-7. doi: 10.1002/(sici)1096-8628(19970822)71:3<251::aid-ajmg1>3.0.co;2-x. PMID: 9268091

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