Tibijalna hemimelija udružena s djelomično udvostručenim femurom: prikaz slučaja
DOI:
https://doi.org/10.13112/pc.312Ključne riječi:
tibijalna hemimelija, udvostručenje femura, uvrnuto stopalo, urođene abnormalnosti ekstremitetaSažetak
Tibijalna hemimelija je rijetki kongenitalni poremećaj sa raznolikom kliničkom slikom te može zahvaćati jedan ili oba donja ekstremiteta. Cilj ovog istraživanja je doprinijeti spoznajama o mogućim kliničkim slikama ovog rijetkog stanja. Prikazujemo slučaj muškog novorođenčeta sa tibijalnom hemimelijom koji je bio upućen u našu kliniku radi daljnje procjene i liječenja. Prema našim spoznajama, ovo je prvi opis slučaja tibijalne hemimelije sa udvostručenjem femura u medicinskoj literaturi. Za cjelovitu procjenu pacijenata sa tibijalnom hemimelijom potreban je multidisciplinarni pristup te temeljita i opetovana dijagnostika, a sve u svrhu točne i detaljne klasifikacije poremećaja kako bi se omogućilo pravodobno i adekvatno liječenje.
Reference
1. Fernandez-Palazzi F, Bendahan J, Rivas S. Congenital deficiency of the tibia: a report on 22 cases. J Pediatr Orthop B. 1998;7(4):298-302. doi: 10.1097/01202412-199810000-00008.
2. Chong DY, Paley D. Deformity Reconstruction Surgery for Tibial Hemimelia. Children. 2021; 8(6):461. https://doi.org/10.3390/children8060461
3. Nutt JJ, Smith EE. Total congenital absence of the tibia. Am J Roentgen. 1941;46:841.
4. Spiegel DA, Loder RT, Crandall RC. Congenital longitudinal deficiency of the tibia. Int Orthop. 2003;27(6):338-42. doi: 10.1007/s00264-003-0490-5.
5. Chinnakkannan S, Das RR, Rughmini K, Ahmed S. A case of bilateral tibial hemimelia type VIIa. Indian J Hum Genet. 2013;19(1):108-10. doi: 10.4103/0971-6866.112924.
6. Richieri-Costa A, Ferrareto I, Masiero D, da Silva CR. Tibial hemimelia: report on 37 new cases, clinical and genetic considerations. Am J Med Genet. 1987;27(4):867-84. doi: 10.1002/ajmg.1320270414.
7. Wiedemann HR, Opitz JM. Brief clinical report: unilateral partial tibia defect with preaxial polydactyly, general micromelia, and trigonomacrocephaly with a note on "developmental resistance". Am J Med Genet. 1983;14(3):467-471. doi:10.1002/ajmg.1320140310
8. Majewski F, Küster W, ter Haar B, Goecke T. Aplasia of tibia with split-hand/split-foot deformity. Report of six families with 35 cases and considerations about variability and penetrance. Hum Genet. 1985;70(2):136-47. doi: 10.1007/BF00273072.
9. Dreyfus M, Baldauf JJ, Rigaut E, Clavert JM, Gasser B, Ritter J. Prenatal diagnosis of unilateral tibial hemimelia. Ultrasound Obstet Gynecol. 1996;7(3):205-207. doi: 10.1046/j.1469-0705.1996.07030205.x.
10. Lezirovitz K, Maestrelli SR, Cotrim NH, Otto PA, Pearson PL, Mingroni-Netto RC. A novel locus for split-hand/foot malformation associated with tibial hemimelia (SHFLD syndrome) maps to chromosome region 17p13.1-17p13.3. Hum Genet. 2008;123(6):625-631. doi: 10.1007/s00439-008-0515-7.
11. Clinton R, Birch JG, Congenital Tibial Deficiency: A 37-Year Experience at 1 Institution. J Pediatr Orthop; 2015 Jun;35(4):385-90. doi: 10.1097/BPO.0000000000000280.
12. Kalamchi A, Dawe RV. Congenital deficiency of the tibia. J Bone Joint Surg Br. 1985;67(4):581-584. doi: 10.1302/0301-620X.67B4.4030854.
13. Weber M. New classification and score for tibial hemimelia. J Child Orthop. 2008;2:169-175. doi: 10.1007/s11832-008-0081-5.
14. Wolfgang GL. Complex congenital anomalies of the lower extremities: femoral bifurcation, tibial hemimelia, and diastasis of the ankle. Case report and review of the literature. J Bone Joint Surg Am. 1984;66:453–458.
15. Schoenecker PL, Capelli AM, Millar EA et al. Congenital longitudinal deficiency of the tibia. J Bone Joint Surg Am. 1989;71(2):278–287. doi: 10.2106/00004623-198971020-00016.
16. Paley D. Tibial hemimelia: new classification and reconstructive options. J Child Orthop. 2016;10(6):529–555. doi:10.1007/s11832-016-0785-x
Preuzimanja
Objavljeno
Broj časopisa
Rubrika
Licenca
Autorska prava (c) 2024 Sven Šimunić, Marijana Šimić Jovičić, Tomislav Ribičić, Rebeka Ribičić

Ovo djelo je licencirano pod licencom Creative Commons Attribution 4.0 Međunarodna licenca.
By publishing in Paediatria Croatica, authors retain the copyright to their work and grant others the right to use, reproduce, and share their research articles in accordance with the Creative Commons Attribution License (CC BY 4.0), which allows others to distribute and build upon the work as long as they credit the author for the original creation.

