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Anomaly of lower limb diaphyses

MedGen UID:
868373
•Concept ID:
C4022767
•
Anatomical Abnormality
Synonym: Anomaly of shaft of long bone of lower limb
 
HPO: HP:0012699

Definition

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

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAnomaly of lower limb diaphyses

Recent clinical studies

Etiology

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
No osteolysis at the telescopic junction of 128 FITBONE lengthening nails.
Leblanc C, Rölfing JD, Langlais T, Sales de Gauzy J, Accadbled F
Orthop Traumatol Surg Res 2023 May;109(3):103501. Epub 2022 Dec 5 doi: 10.1016/j.otsr.2022.103501. PMID: 36470369
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
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

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
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
Weismann-Netter syndrome and mental retardation: a new patient and review of the literature.
Peippo M, Valanne L, Perhomaa M, Toivanen L, Ignatius J
Am J Med Genet A 2009 Nov;149A(11):2593-601. doi: 10.1002/ajmg.a.33019. PMID: 19839038
Growth of the tibia and fibula bones in human fetuses.
Cupello AJ, Ambròsio JD, de Vasconcellos HA
Bull Assoc Anat (Nancy) 1995 Sep;79(246):17-20. PMID: 8541605

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
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
Limb lengthening and three-dimensional deformity corrections. A retrospective clinical study.
Korzinek K, Tepic S, Perren SM
Arch Orthop Trauma Surg 1990;109(6):334-40. doi: 10.1007/BF00636172. PMID: 2073453
Osteopenia after osteotomy of the tibia.
Finsen V
Calcif Tissue Int 1988 Jan;42(1):1-4. doi: 10.1007/BF02555831. PMID: 3129162

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
Femoral malrotation from diaphyseal fractures results in changes in patellofemoral alignment and higher patellofemoral stress from a finite element model study.
Dagneaux L, Allal R, Pithioux M, Chabrand P, Ollivier M, Argenson JN
Knee 2018 Oct;25(5):807-813. Epub 2018 Jul 27 doi: 10.1016/j.knee.2018.06.008. PMID: 30060996
Finite element model of the proximal femur under consideration of the hip centralizing forces of the iliotibial tract.
Birnbaum K, Pandorf T
Clin Biomech (Bristol, Avon) 2011 Jan;26(1):58-64. Epub 2010 Oct 16 doi: 10.1016/j.clinbiomech.2010.09.005. PMID: 20952111
Congenital posteromedial bowing of the tibia: a retrospective analysis of growth abnormalities in the leg.
Shah HH, Doddabasappa SN, Joseph B
J Pediatr Orthop B 2009 May;18(3):120-8. doi: 10.1097/BPB.0b013e328329dc86. PMID: 19339901
Fetal weight prediction by thigh volume measurement with three-dimensional ultrasonography.
Song TB, Moore TR, Lee JI, Kim YH, Kim EK
Obstet Gynecol 2000 Aug;96(2):157-61. doi: 10.1016/s0029-7844(00)00884-x. PMID: 10908755

Clinical prediction guides

No osteolysis at the telescopic junction of 128 FITBONE lengthening nails.
Leblanc C, Rölfing JD, Langlais T, Sales de Gauzy J, Accadbled F
Orthop Traumatol Surg Res 2023 May;109(3):103501. Epub 2022 Dec 5 doi: 10.1016/j.otsr.2022.103501. PMID: 36470369
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
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
Growth of the tibia and fibula bones in human fetuses.
Cupello AJ, Ambròsio JD, de Vasconcellos HA
Bull Assoc Anat (Nancy) 1995 Sep;79(246):17-20. PMID: 8541605
Limb lengthening and three-dimensional deformity corrections. A retrospective clinical study.
Korzinek K, Tepic S, Perren SM
Arch Orthop Trauma Surg 1990;109(6):334-40. doi: 10.1007/BF00636172. PMID: 2073453

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