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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

Untethering physiolysis for delta phalanx (longitudinally bracketed diaphysis) combined with free fat interposition graft.
Lee HJ, Kim PT, Jeon IH, Deslivia MF, Lee SJ, Kim HJ, Yoon JP
Hand Surg Rehabil 2017 Sep;36(4):286-289. Epub 2017 Jul 13 doi: 10.1016/j.hansur.2017.06.003. PMID: 28712787
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
Proximal/distal mismatch: type A and C femurs.
Christie M, Brinson MF
Orthopedics 2005 Sep;28(9 Suppl):s1033-6. doi: 10.3928/0147-7447-20050902-05. PMID: 16190030
Mechanical influences on tibial fracture healing.
Kenwright J, Gardner T
Clin Orthop Relat Res 1998 Oct;(355 Suppl):S179-90. doi: 10.1097/00003086-199810001-00019. PMID: 9917638
Fractures in patients who have myelomeningocele.
Lock TR, Aronson DD
J Bone Joint Surg Am 1989 Sep;71(8):1153-7. PMID: 2777841

Diagnosis

Monostotic femoral Caffey disease masquerading as Ewing sarcoma.
Kumari M, Prasad SN, Meena A, Tekkali KPK
BMJ Case Rep 2024 Sep 30;17(9) doi: 10.1136/bcr-2024-261790. PMID: 39349301
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
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
Variability of the metaphyseal-diaphyseal angle in tibia vara: a comparison of two methods.
Auerbach JD, Radomisli TE, Simoncini J, Ulin RI
J Pediatr Orthop 2004 Jan-Feb;24(1):75-8. PMID: 14676538
Engelmann's disease.
Krohel GB, Wirth CR
Am J Ophthalmol 1977 Oct;84(4):520-5. doi: 10.1016/0002-9394(77)90445-7. PMID: 910856

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
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
Femoral shortening and cementless arthroplasty in Crowe type 4 congenital dislocation of the hip.
Neumann D, Thaler C, Dorn U
Int Orthop 2012 Mar;36(3):499-503. Epub 2011 Jun 11 doi: 10.1007/s00264-011-1293-8. PMID: 21667220Free PMC Article
Hemiepiphysiodesis for posttraumatic tibial valgus.
Stevens PM, Pease F
J Pediatr Orthop 2006 May-Jun;26(3):385-92. doi: 10.1097/01.bpo.0000206515.84577.70. PMID: 16670554
Ghosal haemato-diaphyseal dysplasia: a new disorder.
Gümrük F, Besim A, Altay C
Eur J Pediatr 1993 Mar;152(3):218-21. doi: 10.1007/BF01956148. PMID: 8444247

Prognosis

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
Anteromedial wedge reduction osteotomy 
for the treatment of femoral head deformities.
Burian M, Dungl P, Nanka O, Chomiak J, Ostadal M, Frydrychova M, Kubes R
Hip Int 2013 May-Jun;23(3):281-6. Epub 2013 Mar 5 doi: 10.5301/hipint.5000017. PMID: 23475419
Proximal/distal mismatch: type A and C femurs.
Christie M, Brinson MF
Orthopedics 2005 Sep;28(9 Suppl):s1033-6. doi: 10.3928/0147-7447-20050902-05. PMID: 16190030
Mechanical influences on tibial fracture healing.
Kenwright J, Gardner T
Clin Orthop Relat Res 1998 Oct;(355 Suppl):S179-90. doi: 10.1097/00003086-199810001-00019. PMID: 9917638
Aftermath of osteogenesis imperfecta: the disease in adulthood.
Moorefield WG Jr, Miller GR
J Bone Joint Surg Am 1980 Jan;62(1):113-9. PMID: 7351402

Clinical prediction guides

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
Genetic Disruption of Anoctamin 5 in Mice Replicates Human Gnathodiaphyseal Dysplasia (GDD).
Wang X, Liu X, Dong R, Liang C, Reichenberger EJ, Hu Y
Calcif Tissue Int 2019 Jun;104(6):679-689. Epub 2019 Feb 2 doi: 10.1007/s00223-019-00528-x. PMID: 30712070
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
Anteromedial wedge reduction osteotomy 
for the treatment of femoral head deformities.
Burian M, Dungl P, Nanka O, Chomiak J, Ostadal M, Frydrychova M, Kubes R
Hip Int 2013 May-Jun;23(3):281-6. Epub 2013 Mar 5 doi: 10.5301/hipint.5000017. PMID: 23475419
Natural history of infantile tibia vara.
Shinohara Y, Kamegaya M, Kuniyoshi K, Moriya H
J Bone Joint Surg Br 2002 Mar;84(2):263-8. doi: 10.1302/0301-620x.84b2.11821. PMID: 11922370

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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