Tibial hemimelia with partially duplicated femur: a case report
DOI:
https://doi.org/10.13112/pc.312Keywords:
tibial hemimelia, femoral duplication, clubfoot, congenital limb deformityAbstract
Tibial hemimelia is a rare congenital entity with a wide range of clinical manifestations affecting one or both lower extremities. The purpose of description of this case is to contribute to clinical insights into the variations associated with this rare entity. We present a case of a male newborn with tibial hemimelia who was referred to our clinic for further evaluation and treatment. According to our knowledge, this is the first description of tibial hemimelia with femoral duplication in medical literature. Multidisciplinary approach and thorough examination of patients with tibial hemimelia are required to understand full extent of deficiency and accompanying anomalies, and to ensure correct classification in order to provide the best treatment plan for each patient.
References
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
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