Publication of the article:
«Bulletin of problems biology and medicine», 2021 Issue 3, 161,
ONTOLOGY OF CONGENITAL DEFECTS OF THE FEMUR
About the author:
Hryhorieva P. V.
Heading:
LITERATURE REVIEWS
Type of article:
Scentific article
Annotation:
Deepening and generalization of already existing knowledge about rare diseases and congenital anomalies become relevant in modern medical practice. Congenital malformations (CM) of the lower extremities are represented by a wide range of anomalies that occur due to impaired formation or differentiation of one or more bones. Based on the analysis of literature sources, an attempt is made to generalize the existing information about the CM of the skeleton of the lower extremities and proposed their classification and interpretation according to the alphabet. CM of the lower extremities is relatively rare, the incidence is about 1 in 1300-2000 live births. CM of the long bones of the lower extremities is usually unilateral and solitary but may be associated with abnormalities of other bones and/or viscera. CM of the thigh is the most numerous group of anomalies of the lower extremities, among them there are 4 main subgroups. The first subgroup includes CM of the femur, in which all segments of the bone are present. These include hip shortening, various bone deformities, and hypoplasia of the proximal or distal parts. The second subgroup is characterized by the absence of the proximal femur. The third subgroup is represented only by the rudiments of femoral condyles, and in patients of the fourth subgroup – the femur is absent. Femoral morphometry has found its clinical application for the diagnosis of CM of the lower extremities. The length of the femur, which is measured by ultrasound in the third trimester of pregnancy is an important marker of delayed or impaired fetal development. From the point of view of X-ray anatomy, in terms of age, indicators that characterize the proximal femur, such as cervical-diaphyseal angle and ante torsion angle, are of practical importance. If femoral abnormalities are suspected, other congenital anomalies should be ruled out, including femoral facial syndrome, femoral tibia syndrome, and more severe deformities such as achondrogenesis, achondroplasia, chondroectodermal, and thanatophoric dysplasia.
Tags:
femur, congenital malformations, anatomy, human
Bibliography:
- Hodler J, Kubik-Huch R, von Schulthess G, editors. Musculoskeletal Diseases 2017-2020. Diagnostic Imaging. Springer International Publishing; 2017. Chapter, Congenital Disorders of the Pediatric Extremities; p. 295-302. DOI: 10.1007/978-3-319-54018-4_31.
- Uduma FU, Dim EM, Njeze NR. Proximal femoral focal deficiency – a rare congenital entity: two case reports and a review of the literature. J Med Case Rep [Internet]. 2020 [cited 2021 Aug 30];14(1):27. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7001305/pdf/13256_2020_ Article_2350.pdf. DOI: 10.1186/s13256-020-2350-y.
- Bergman JEH, Löhner K, van der Sluis CK, Rump P, de Walle HEK. Etiological diagnosis in limb reduction defects and the number of affected limbs: A population-based study in the Northern Netherlands. Am J Med Genet A. 2020;182(12):2909-18. DOI: 10.1002/ajmg.a.61875.
- Kinsner-Ovaskainen A, Lanzoni M, Garne E, Loane M, Morris J, Neville A, et al. A sustainable solution for the activities of the European network for surveillance of congenital anomalies: EUROCAT as part of the EU Platform on Rare Diseases Registration. Eur J Med Genet. 2018;61(9):513-7. DOI: 10.1016/j.ejmg.2018.03.008.
- Klungsøyr K, Nordtveit TI, Kaastad TS, Solberg S, Sletten IN, Vik AK. Epidemiology of limb reduction defects as registered in the Medical Birth Registry of Norway, 1970-2016: Population based study. PLoS One [Internet]. 2019 [cited 2021 Sep 03];14(7):e0219930. Available from: https://www.ncbi.nlm. nih.gov/pmc/articles/PMC6636750/pdf/pone.0219930.pdf. DOI: 10.1371/journal.pone.0219930.
- Ren Y, You YQ, Zhou HH, Wang LX, Xu H, Li RB, et al. Clinical analysis of 21 cases with short fetal femur in the third trimester. Zhonghua Fu Chan Ke Za Zhi. 2017;52(2):86-92. DOI: 10.3760/cma.j.issn.0529-567X.2017. 02.004.
- Liu J, Huang L, He Z, Lin S, Wang Y, Luo Y. Clinical value of genetic analysis in prenatal diagnosis of short femur. Mol Genet Genomic Med [Internet]. 2019 [cited 2021 Aug 30];7(11):e978. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6825856/pdf/MGG3-7-e978.pdf. DOI: 10.1002/ mgg3.978.
- Syngelaki A, Hammami A, Bower S, Zidere V, Akolekar R, Nicolaides KH. Diagnosis of fetal non-chromosomal abnormalities on routine ultrasound examination at 11-13 weeks’ gestation. Ultrasound Obstet Gynecol. 2019;54(4):468-76. DOI: 10.1002/uog.20844.00
- Gerscovich EO, Sekhon S, Loehfelm TW, Greenspan A. Fetal ultrasound: Early diagnosis and natural evolution of proximal femoral focal deficiency. J Ultrason. 2017;17(71):294-8. DOI: 10.15557/JoU.2017.0043.
- D’Ambrosio V, Vena F, Marchetti C, Di Mascio D, Perrone S, Boccherini C, et al. Midtrimester isolated short femur and perinatal outcomes: A systematic review and meta-analysis. Acta Obstet Gynecol Scand. 2019;98(1):11-7. DOI: 10.1111/aogs.13470.
- Hootnick DR, Vargesson N. The syndrome of proximal femur, fibula, and midline metatarsal long bone deficiencies. Birth Defects Res. 2018;110(15):1188- 93. DOI: 10.1002/bdr2.1349.
- Suzuki Y, Matsubayashi J, Ji X, Yamada S, Yoneyama A, Imai H, et al. Morphogenesis of the femur at different stages of normal human development. PLoS One [Internet]. 2019 [cited 2021 Sep 03];14(8):e0221569. Available from: https://www.ncbi.nlm.nih.gov/pmc /articles/PMC6707600/pdf/ pone.0221569.pdf. DOI: 10.1371/journal.pone. 0221569.
- van Heerwaarden R, Brinkman JM, Pronk Y. Correction of Femoral Valgus Deformity. Journal Knee Surg. 2017;30(8):746-55. DOI: 10.1055/s-0037- 1602138.
- Szymczuk VL, Hammouda AI, Gesheff MG, Standard SC, Herzenberg JE. Lengthening With Monolateral External Fixation Versus Magnetically Motorized Intramedullary Nail in Congenital Femoral Deficiency. J Pediatr Orthop. 2019;39(9):458-65. DOI: 10.1097/BPO.0000000000001047.
- Khmara TV, Afonʹkina AS, Vasylʹchyshyn YM, Biryuk IH, Vasylʹchyshyna AV. Ontolohiya vrodzhenykh vad skeleta stopy. Klinichna anatomiya ta operatyvna khirurhiya. 2017;16(1):137-43. DOI: https://doi.org/10.24061/1727-0847.16.1.2017.66. [in Ukrainian].
- Komar TV, Khmara TV, Popovych AI, Kavun MP, Petriuk AIe. Ontolohiia urodzhenykh vad kistok homilky. Vistnyk problem biolohii i medytsyny.2021;1:273-8. DOI: 10.29254/2077-4214-2021-1-159-273-278. [in Ukrainian].
- Boichuk TM, Oliinyk IIu, Antoniuk OP, Pykaliuk VS. Pryrodzheni vady rozvytku liudyny. Zahal’ni polozhennia teratolohii. Chernivtsi: Meduniversytet; 2015. 361 s. [in Ukrainian].
- Zhao P, Jin ZW, Kim JH, Abe H, Murakami G, Rodríguez-Vázquez JF. Differences in foetal topographical anatomy between insertion sites of the iliopsoas and gluteus medius muscles into the proximal femur: a consideration of femoral torsion. Folia Morphol (Warsz). 2019;78(2):408-18. DOI: 10.5603/ fm.a2018.0083.
- Scorcelletti M, Reeves ND, Rittweger J, Ireland A. Femoral anteversion: significance and measurement. J Anat. 2020;237(5):811-26. DOI: 10.1111 / joa.13249.
- Bergère A, Amzallag-Bellenger E, Lefebvre G, Dieux-Coeslier A, Mezel A, Herbaux B, et al. Imaging features of lower limb malformations above the foot. Diagn Interv Imaging. 2015;96(9):901-14. DOI: 10.1016/j.diii. 2014.08.008.
- Kalmin OV. Kalmina OA. Anomalii razvitiya organov i chastey chelovecheskogo tela. Rostov; 2016. 591 s. [in Russian].
- Utomo P, Kumara HC, Satriadi AB, Kusuma DA. Bilateral Congenital Absence of Femur: A Rare Case Report. J Orthop Case Rep. 2019;9(4):19-21. DOI: 10.13107/jocr.2019.v09.i04.1460.
- Pejin Z. Femoral lengthening in children and adolescents. Orthop Traumatol Surg Res [Internet]. 2017 [cited 2021 Sep 03];103(1):143-9. Available from: https://click.endnote.com/viewer?doi=10.1016/j.otsr.2016 05.020&route=6. DOI: 10.1016/j.otsr.2016.05.020.
- Vasisht P, Madakshira MG, Kakkar N, Singla V, Jain V. Tale of a mermaid. Indian J Pathol Microbiol. 2019;62(4):611-3. DOI: 10.4103 /IJPM.IJPM_668_18.
- Kylat RI, Bader M. Caudal Regression Syndrome. Children (Basel) [Internet]. 2020 [cited 2021 Aug 28];7(11):211. Available from: https://www.ncbi.nlm. nih.gov/pmc/articles/PMC7694368/pdf/children-07-00211.pdf. DOI: 10.3390/children7110211.
- Khan SA, Moores TS, Docker C. Apert syndrome: Be aware of the ‘dodgy’ hip! BMJ Case Rep [Internet]. 2018 [cited 2021 August 28];2018:bcr2017221789. Available from: https://www.ncbi.nlm.nih.gov/ pmc/articles/PMC6040493/pdf/bcr-2017-221789.pdf. DOI: 10.1136/bcr-2017-221789.
- Gaffney JT, Spellman J. Prevalence of Hip Ultrasound Abnormalities in Newborns With a Hip Click. Clin Pediatr (Phila). 2020;59(8):773-7. DOI: 10.1177/0009922820920011.
Publication of the article:
«Bulletin of problems biology and medicine» Issue 3 (161), 2021 year, 26-31 pages, index UDK 611.718.4.012.013
DOI:
10.29254/2077-4214-2021-3-161-26-31