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Abnormal diaphysis morphology

MedGen UID:
867416
•Concept ID:
C4021787
•
Anatomical Abnormality
Synonym: Anomaly of the limb diaphyses
 
HPO: HP:0000940

Definition

An abnormality of the structure or form of the diaphysis, i.e., of the main or mid-section (shaft) of a long bone. [from HPO]

Professional guidelines

PubMed

Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features.
Rosato S, Unger S, Campos-Xavier B, Caraffi SG, Beltrami L, Pollazzon M, Ivanovski I, Castori M, Bonasoni MP, Comitini G, Nikkels PGJ, Lindstrom K, Umandap C, Superti-Furga A, Garavelli L
Genes (Basel) 2022 Jan 28;13(2) doi: 10.3390/genes13020261. PMID: 35205306Free PMC Article
Are there clinically relevant anatomical differences of the proximal femur in patients with mild dysplastic and primary hip osteoarthritis? A CT-based matched-pairs cohort study.
Innmann MM, Hasberg S, Waldstein W, Grammatopoulos G, Gill HS, Pegg EC, Aldinger PR, Merle C
Clin Radiol 2019 Nov;74(11):896.e17-896.e22. Epub 2019 Aug 26 doi: 10.1016/j.crad.2019.06.032. PMID: 31466797
Prophylactic bypass grafting and long-term bracing in the management of anterolateral bowing of the tibia and neurofibromatosis-1.
Ofluoglu O, Davidson RS, Dormans JP
J Bone Joint Surg Am 2008 Oct;90(10):2126-34. doi: 10.2106/JBJS.G.00272. PMID: 18829910

Recent clinical studies

Etiology

MR features of primary bone lymphoma in children.
Duffy P, Ecklund K
Pediatr Radiol 2023 Nov;53(12):2400-2410. Epub 2023 Sep 29 doi: 10.1007/s00247-023-05772-w. PMID: 37770576
Is the Citak classification of distal femur morphology age and gender dependent?
Dasci MF, Kose O, Budin M, Kara S, Gehrke T, Citak M
Arch Orthop Trauma Surg 2023 Nov;143(11):6773-6779. Epub 2023 Jul 4 doi: 10.1007/s00402-023-04959-y. PMID: 37400672
Intra-medullary osteosclerosis of the tibia in children.
Barbier D, Journeau P, Lascombes P, Dohin B, Cottalorda J, Sales de Gauzy J
Orthop Traumatol Surg Res 2019 May;105(3):551-556. Epub 2019 Apr 8 doi: 10.1016/j.otsr.2018.10.026. PMID: 30975636
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
The Erlenmeyer flask bone deformity in the skeletal dysplasias.
Faden MA, Krakow D, Ezgu F, Rimoin DL, Lachman RS
Am J Med Genet A 2009 Jun;149A(6):1334-45. doi: 10.1002/ajmg.a.32253. PMID: 19444897Free PMC Article

Diagnosis

MR features of primary bone lymphoma in children.
Duffy P, Ecklund K
Pediatr Radiol 2023 Nov;53(12):2400-2410. Epub 2023 Sep 29 doi: 10.1007/s00247-023-05772-w. PMID: 37770576
Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features.
Rosato S, Unger S, Campos-Xavier B, Caraffi SG, Beltrami L, Pollazzon M, Ivanovski I, Castori M, Bonasoni MP, Comitini G, Nikkels PGJ, Lindstrom K, Umandap C, Superti-Furga A, Garavelli L
Genes (Basel) 2022 Jan 28;13(2) doi: 10.3390/genes13020261. PMID: 35205306Free PMC Article
Intra-medullary osteosclerosis of the tibia in children.
Barbier D, Journeau P, Lascombes P, Dohin B, Cottalorda J, Sales de Gauzy J
Orthop Traumatol Surg Res 2019 May;105(3):551-556. Epub 2019 Apr 8 doi: 10.1016/j.otsr.2018.10.026. PMID: 30975636
Hypertrophic Osteoarthropathy: Clinical and Imaging Features.
Yap FY, Skalski MR, Patel DB, Schein AJ, White EA, Tomasian A, Masih S, Matcuk GR Jr
Radiographics 2017 Jan-Feb;37(1):157-195. Epub 2016 Dec 9 doi: 10.1148/rg.2017160052. PMID: 27935768
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

Therapy

Is the Citak classification of distal femur morphology age and gender dependent?
Dasci MF, Kose O, Budin M, Kara S, Gehrke T, Citak M
Arch Orthop Trauma Surg 2023 Nov;143(11):6773-6779. Epub 2023 Jul 4 doi: 10.1007/s00402-023-04959-y. PMID: 37400672
Primary lymphoma of the tibia in children: Two case reports.
Suo H, Fu L, Wang Z, Liang H, Xu Z, Feng W
Medicine (Baltimore) 2020 Jan;99(4):e18807. doi: 10.1097/MD.0000000000018807. PMID: 31977874Free PMC Article
High Femoral Anteversion Is Related to Femoral Trochlea Dysplasia.
Liebensteiner MC, Ressler J, Seitlinger G, Djurdjevic T, El Attal R, Ferlic PW
Arthroscopy 2016 Nov;32(11):2295-2299. Epub 2016 May 18 doi: 10.1016/j.arthro.2016.03.023. PMID: 27209622
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
Imaging findings in symptomatic patients with femoral diaphyseal stress injuries.
Theodorou SJ, Theodorou DJ, Resnick D
Acta Radiol 2006 May;47(4):377-84. doi: 10.1080/02841850600570508. PMID: 16739697

Prognosis

Imaging Review of Normal and Abnormal Skeletal Maturation.
Augusto ACL, Goes PCK, Flores DV, Costa MAF, Takahashi MS, Rodrigues ACO, Padula LC, Gasparetto TD, Nogueira-Barbosa MH, Aihara AY
Radiographics 2022 May-Jun;42(3):861-879. Epub 2022 Feb 25 doi: 10.1148/rg.210088. PMID: 35213260
Primary lymphoma of the tibia in children: Two case reports.
Suo H, Fu L, Wang Z, Liang H, Xu Z, Feng W
Medicine (Baltimore) 2020 Jan;99(4):e18807. doi: 10.1097/MD.0000000000018807. PMID: 31977874Free PMC Article
Hypertrophic Osteoarthropathy: Clinical and Imaging Features.
Yap FY, Skalski MR, Patel DB, Schein AJ, White EA, Tomasian A, Masih S, Matcuk GR Jr
Radiographics 2017 Jan-Feb;37(1):157-195. Epub 2016 Dec 9 doi: 10.1148/rg.2017160052. PMID: 27935768
Guided growth for pathological physes: radiographic improvement during realignment.
Stevens PM, Klatt JB
J Pediatr Orthop 2008 Sep;28(6):632-9. doi: 10.1097/BPO.0b013e3181841fda. PMID: 18724199
Total hip arthroplasty in patients with proximal femoral deformity.
Berry DJ
Clin Orthop Relat Res 1999 Dec;(369):262-72. doi: 10.1097/00003086-199912000-00027. PMID: 10611881

Clinical prediction guides

Does the Clinical Presentation of Secondary Osteosarcoma in Patients Who Survive Retinoblastoma Differ From That of Conventional Osteosarcoma and How Do We Detect Them?
Kim Y, Park JW, Cho HS, Jang WY, Han I, Kim HS
Clin Orthop Relat Res 2023 Nov 1;481(11):2154-2163. Epub 2023 May 5 doi: 10.1097/CORR.0000000000002667. PMID: 37145140Free PMC Article
Imaging Review of Normal and Abnormal Skeletal Maturation.
Augusto ACL, Goes PCK, Flores DV, Costa MAF, Takahashi MS, Rodrigues ACO, Padula LC, Gasparetto TD, Nogueira-Barbosa MH, Aihara AY
Radiographics 2022 May-Jun;42(3):861-879. Epub 2022 Feb 25 doi: 10.1148/rg.210088. PMID: 35213260
Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features.
Rosato S, Unger S, Campos-Xavier B, Caraffi SG, Beltrami L, Pollazzon M, Ivanovski I, Castori M, Bonasoni MP, Comitini G, Nikkels PGJ, Lindstrom K, Umandap C, Superti-Furga A, Garavelli L
Genes (Basel) 2022 Jan 28;13(2) doi: 10.3390/genes13020261. PMID: 35205306Free PMC Article
Intra-medullary osteosclerosis of the tibia in children.
Barbier D, Journeau P, Lascombes P, Dohin B, Cottalorda J, Sales de Gauzy J
Orthop Traumatol Surg Res 2019 May;105(3):551-556. Epub 2019 Apr 8 doi: 10.1016/j.otsr.2018.10.026. PMID: 30975636
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

Recent systematic reviews

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

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