usfdУльтразвуковая и функциональная диагностикаUltrasound & Functional Diagnostics1607-07712408-9494Vidar Ltd.10.24835/1607-0771-2021-4-30-37usfd-66Research ArticleУльтразвуковая диагностика в акушерстве и гинекологииObstetrics and Gynecology UltrasoundПренатальная диагностика гемимелии малоберцовой кости: клиническое наблюдениеPrenatal diagnosis of fibular hemimelia: case reporthttps://orcid.org/0000-0002-4103-2223БалтерР. Б.BalterR. B.regina.balter@yandex.ruhttps://orcid.org/0000-0001-6813-0248ПугачеваТ. П.PugachevaT. P.noemail@neicon.ruhttps://orcid.org/0000-0001-5720-7457РомановаС. Н.RomanovaS. N.noemail@neicon.ruФГБОУ ВО “Самарский государственный медицинский университет” Министерства здравоохранения Российской ФедерацииРоссияSamara State Medical UniversityRussian Federation202103022024043037Copyright © Балтер Р.Б., Пугачева Т.П., Романова С.Н., 20242024Балтер Р.Б., Пугачева Т.П., Романова С.Н.Balter R.B., Pugacheva T.P., Romanova S.N.This work is licensed under a Creative Commons Attribution 4.0 License.https://usfd.vidar.ru/jour/article/view/66

В статье представлен редкий случай гемимелии малоберцовой кости. Гемимелия малоберцовой кости - это врожденный дефект нижней конечности, характеризующийся полным отсутствием или гипоплазией малоберцовой кости. В рамках второго скринингового ультразвукового исследования проведено обследование пациентки М., 23 лет. Срок беременности - 20 нед 6 дней. Ультразвуковое исследование проводилось на аппарате H60 (Samsung, Корея) конвексным датчиком 4-8 МГц. При осмотре левой конечности обнаружены следующие патологические признаки: отсутствие малоберцовой кости, укорочение большеберцовой кости, укорочение и аномальная установка стопы. Длина левой большеберцовой кости и длина левой стопы ниже 3-го процентиля для 20 нед беременности. С правой стороны признаки патологии не выявлены. Разница в значениях длины большеберцовых костей с двух сторон составила 5 мм. Длина локтевых костей предплечья с обеих сторон была ниже 3-го процентиля для 20 нед беременности. Беременная приняла решение прервать бере менность. После патологоанатомического исследования ультразвуковое заключение подтвердилось. Патоморфологи ческое заключение: агенезия левой малоберцовой кости, гипоплазия левой большеберцовой кости, вальгусная деформация левой стопы.

The article presents a rare case of fibular hemimelia. Fibular hemimelia is a congenital abnormality of the lower extremity, characterized by the complete absence or hypoplasia of the fibula. Ultrasound was performed in 23-year-old pregnant women at 20 weeks 6 days of gestation as a part of second trimester screening with the use of ultrasound scanner H60 (Samsung, Korea) with a 4-8 MHz convex probe. During the evaluation of the left lower extremity, the following pathological signs were revealed: absence of the fibula, shortening of the tibia, shortening and abnormal foot position. Left tibia and left foot lengths were below the 3rd percentile for 20 weeks of gestation. There were no contralateral pathological findings. The length difference of tibias was 5 mm. The length of ulna was below the 3rd percentile for 20 weeks of gestation on both forearms. The patient decided to terminate the pregnancy. Fetal autopsy report confirmed the ultrasound findings: agenesia of the left fibula, hypoplasia of the left tibia, valgus deformity of the left foot.

пренатальная ультразвуковая диагностикагемимелия малоберцовой костибедренная костьбольшеберцовая костьстопаprenatal ultrasoundfibular hemimeliafemurtibiafootReferencesYakut Z.I., Ipek A., Akkaya H., Arslan H. Prenatal diagnosis of type 1 fibular hemimelia. J. Med. Ultrason. (2001). 2014; 41 (4): 515-519. https://doi.org/10.1007/s10396-014-0550-zYakut Z.I., Ipek A., Akkaya H., Arslan H. Prenatal diagnosis of type 1 fibular hemimelia. J. Med. Ultrason. (2001). 2014; 41 (4): 515-519. https://doi.org/10.1007/s10396-014-0550-zMonteagudo A., Dong R., Timor-Tritsch I.E. Fetal fibular hemimelia: case report and review of the literature. J. Ultrasound Med. 2006; 25 (4): 533-537. https://doi.org/10.7863/jum.2006.25.4.533Monteagudo A., Dong R., Timor-Tritsch I.E. Fetal fibular hemimelia: case report and review of the literature. J. Ultrasound Med. 2006; 25 (4): 533-537. https://doi.org/10.7863/jum.2006.25.4.533Shawki R., Elkhalek H., Gad S., Mohammad S.A. Unilateral proximal focal femoral deficiency, fibular aplasia, tibial campomelia and oligosyndactyly in an Egyptian child - probable FFU syndrome Egypt. J. Med. Hum. Genet. 2014; 15 (3): 299-303. https://doi.org/10.1016/j.ejmhg.2014.03.001Shawki R., Elkhalek H., Gad S., Mohammad S.A. Unilateral proximal focal femoral deficiency, fibular aplasia, tibial campomelia and oligosyndactyly in an Egyptian child - probable FFU syndrome Egypt. J. Med. Hum. Genet. 2014; 15 (3): 299-303. https://doi.org/10.1016/j.ejmhg.2014.03.001Ozdemir M., Kavak R.P., Dinc E. Postaxial hypoplasia of the lower extremity (fibular hemimelia) presenting in a young adult male. Radiol. Case Rep. 2019; 14 (8): 1027-1030. https://doi.org/10.1016/j.radcr.2019.05.035Ozdemir M., Kavak R.P., Dinc E. Postaxial hypoplasia of the lower extremity (fibular hemimelia) presenting in a young adult male. Radiol. Case Rep. 2019; 14 (8): 1027-1030. https://doi.org/10.1016/j.radcr.2019.05.035Paley D. Surgical reconstruction for fibular hemimelia. J. Child. Orthop. 2016; 10 (6): 557-583. https://dx.doi.org/10.1007%2Fs11832-016-0790-0Paley D. Surgical reconstruction for fibular hemimelia. J. Child. Orthop. 2016; 10 (6): 557-583. https://dx.doi.org/10.1007%2Fs11832-016-0790-0Bergere A., Amzallag-Bellenger E., Lefebvre G., Dieux-Coeslier A., Mezel A., Herbaux B., Boutry N. Imaging features of lower limb malformations above the foot. Diagn. Interv. Imaging. 2015; 96 (9): 901-914. https://doi.org/10.1016/j.diii.2014.08.008Bergere A., Amzallag-Bellenger E., Lefebvre G., Dieux-Coeslier A., Mezel A., Herbaux B., Boutry N. Imaging features of lower limb malformations above the foot. Diagn. Interv. Imaging. 2015; 96 (9): 901-914. https://doi.org/10.1016/j.diii.2014.08.008Coventry M.B., Jonson E.W. Jr. Congenital absence of the fibula. J. Bone Joint Surg. Am. 1952; 34-A (4): 941-955.Coventry M.B., Jonson E.W. Jr. Congenital absence of the fibula. J. Bone Joint Surg. Am. 1952; 34-A (4): 941-955.Achterman C., Kalamchi A. Congenital deficiency of the fibula. J. Bone Joint Surg Br. 1979; 61-B (2): 133-137. https://doi.org/10.1302/0301-620x.61b2.438260Achterman C., Kalamchi A. Congenital deficiency of the fibula. J. Bone Joint Surg Br. 1979; 61-B (2): 133-137. https://doi.org/10.1302/0301-620x.61b2.438260Dal Monte A., Donzelli O. Tibial lengthening according to Ilizarov in congenital hypoplasia of the leg. J. Pediatr. Orthop. 1987; 7 (2): 135-138. https://doi.org/10.1097/01241398-198703000-00003Dal Monte A., Donzelli O. Tibial lengthening according to Ilizarov in congenital hypoplasia of the leg. J. Pediatr. Orthop. 1987; 7 (2): 135-138. https://doi.org/10.1097/01241398-198703000-00003Birch J.G., Lincoln T.L., Mack P.W., Birch C.M. Congenital fibular deficiency: a review of thirty years' experience at one institution and a proposed classification system based on clinical deformity. J. Bone Joint Surg. Am. 2011; 93 (12): 1144-1451. https://doi.org/10.2106/jbjs.j.00683Birch J.G., Lincoln T.L., Mack P.W., Birch C.M. Congenital fibular deficiency: a review of thirty years' experience at one institution and a proposed classification system based on clinical deformity. J. Bone Joint Surg. Am. 2011; 93 (12): 1144-1451. https://doi.org/10.2106/jbjs.j.00683Stanitski D.F., Stanitski C.L. Fibular hemimelia: a new classification system. J. Pediatr. Orthop. 2003; 23 (1): 30-34. https://doi.org/10.1097/01241398-200301000-00006Stanitski D.F., Stanitski C.L. Fibular hemimelia: a new classification system. J. Pediatr. Orthop. 2003; 23 (1): 30-34. https://doi.org/10.1097/01241398-200301000-00006Staheli L.T. (ed.) Pediatric orthopaedic secrets. Philadelphia: Hanley & Belfus, 2003. 487 p.Staheli L.T. (ed.) Pediatric orthopaedic secrets. Philadelphia: Hanley & Belfus, 2003. 487 p.Sabharwal S. (ed.). Pediatric lower limb deformities: principles and techniques of management. Cham: Springer, 2016. 634 p.Sabharwal S. (ed.). Pediatric lower limb deformities: principles and techniques of management. Cham: Springer, 2016. 634 p.Oberc A., Sukko J. Fibular hemimelia - diagnostic management, principles, and results of treatment. J. Pediatr. Orthop. B. 2013; 22 (5): 450-546. https://doi.org/10.1097/bpb.0b013e32836330ddOberc A., Sukko J. Fibular hemimelia - diagnostic management, principles, and results of treatment. J. Pediatr. Orthop. B. 2013; 22 (5): 450-546. https://doi.org/10.1097/bpb.0b013e32836330ddMishima K., Kitoh H., Iwata K., Matsushita M., Nishida Y., Hattori T., Ishiguro N. Clinical results and complications of lower limb lengthening for fibular hemimelia: a report of eight cases. Medicine (Baltimore). 2016; 95 (21): e3787. https://doi.org/10.1097/md.0000000000003787Mishima K., Kitoh H., Iwata K., Matsushita M., Nishida Y., Hattori T., Ishiguro N. Clinical results and complications of lower limb lengthening for fibular hemimelia: a report of eight cases. Medicine (Baltimore). 2016; 95 (21): e3787. https://doi.org/10.1097/md.0000000000003787Bedoya M.A., Chauvin N.A., Jaramillo D., Davidson R., Horn B.D., Ho-Fung V. Common patterns of congenital lower extremity shortening: diagnosis, classification, and follow-up. Radiographics. 2015; 35 (4): 1191-1207. https://doi.org/10.1148/rg.2015140196Bedoya M.A., Chauvin N.A., Jaramillo D., Davidson R., Horn B.D., Ho-Fung V. Common patterns of congenital lower extremity shortening: diagnosis, classification, and follow-up. Radiographics. 2015; 35 (4): 1191-1207. https://doi.org/10.1148/rg.2015140196Rodriguez-Ramirez A., Thacker M.M., Becerra L.C., Riddle E.C., Mackenzie W.G. Limb length discrepancy and congenital limb anomalies in fibular hemimelia. J. Pediatr. Orthop. B. 2010; 19 (5): 436-440. https://doi.org/10.1097/bpb.0b013e32832d5d7dRodriguez-Ramirez A., Thacker M.M., Becerra L.C., Riddle E.C., Mackenzie W.G. Limb length discrepancy and congenital limb anomalies in fibular hemimelia. J. Pediatr. Orthop. B. 2010; 19 (5): 436-440. https://doi.org/10.1097/bpb.0b013e32832d5d7dZhang Z., Yi D., Xie R., Hamilton J.L., Kang Q.L., Chen D. Postaxial limb hypoplasia (PALH): the classification, clinical features, and related developmental biology. Ann. N. Y. Acad. Sci. 2017; 1409 (1): 67-78. https://doi.org/10.1111/nyas.13440Zhang Z., Yi D., Xie R., Hamilton J.L., Kang Q.L., Chen D. Postaxial limb hypoplasia (PALH): the classification, clinical features, and related developmental biology. Ann. N. Y. Acad. Sci. 2017; 1409 (1): 67-78. https://doi.org/10.1111/nyas.13440Приказ Министерства здравоохранения РФ от 20 октября 2020 г. № 1130н “Об утверждении Порядка оказания медицинской помощи по профилю «акушерство и гинекология»”. https://base.garant.ru/74840123 (дата обращения 21.09.2021).Приказ Министерства здравоохранения РФ от 20 октября 2020 г. № 1130н “Об утверждении Порядка оказания медицинской помощи по профилю «акушерство и гинекология»”. https://base.garant.ru/74840123 (дата обращения 21.09.2021).Wilcox W.R., Coulter C.P., Schmitz M.L. Congenital limb deficiency disorders. Clin. Perinatol. 2015; 42 (2): 281-300, viii. https://doi.org/10.1111/nyas.13440Wilcox W.R., Coulter C.P., Schmitz M.L. Congenital limb deficiency disorders. Clin. Perinatol. 2015; 42 (2): 281-300, viii. https://doi.org/10.1111/nyas.13440Yakistiran B., Altinboga O., Yuce T., Caglar A.T. Fetal fibular hemimelia with focal femoral deficiency: a case report. Turk. J. Obstet. Gynecol. 2019; 16 (3): 205-207. https://doi.org/10.4274/tjod.galenos.2019.89990Yakistiran B., Altinboga O., Yuce T., Caglar A.T. Fetal fibular hemimelia with focal femoral deficiency: a case report. Turk. J. Obstet. Gynecol. 2019; 16 (3): 205-207. https://doi.org/10.4274/tjod.galenos.2019.89990Fuller C.B., Shannon C.E., Paley D. Lengthening reconstruction surgery for fibular hemimelia: a review. Children (Basel). 2021; 8 (6): 467. https://doi.org/10.3390/children8060467Fuller C.B., Shannon C.E., Paley D. Lengthening reconstruction surgery for fibular hemimelia: a review. Children (Basel). 2021; 8 (6): 467. https://doi.org/10.3390/children8060467Chitty L.S., Altman D.G. Charts of fetal size: limb bones. BJOG. 2002; 109 (8): 919-929. https://doi.org/10.1111/j.1471-0528.2002.01022.xChitty L.S., Altman D.G. Charts of fetal size: limb bones. BJOG. 2002; 109 (8): 919-929. https://doi.org/10.1111/j.1471-0528.2002.01022.xRadler C., Myers A.K., Hunter R.J., Arrabal P.P., Herzenberg J.E. Prenatal diagnosis of congenital femoral deficiency and fibular hemimelia. Prenat. Diagn. 2014; 34 (10): 940-945. https://doi.org/10.1002/pd.4396Radler C., Myers A.K., Hunter R.J., Arrabal P.P., Herzenberg J.E. Prenatal diagnosis of congenital femoral deficiency and fibular hemimelia. Prenat. Diagn. 2014; 34 (10): 940-945. https://doi.org/10.1002/pd.4396Calder P., Shaw S., Roberts A., Tennant S., Sedki I., Hanspal R., Eastwood D. A comparison of functional outcome between amputation and extension prosthesis in the treatment of congenital absence of the fibula with severe limb deformity. J. Child. Orthop. 2017; 11 (4): 318-325. https://doi.org/10.1302/1863-2548.11.160264Calder P., Shaw S., Roberts A., Tennant S., Sedki I., Hanspal R., Eastwood D. A comparison of functional outcome between amputation and extension prosthesis in the treatment of congenital absence of the fibula with severe limb deformity. J. Child. Orthop. 2017; 11 (4): 318-325. https://doi.org/10.1302/1863-2548.11.160264

The authors declare that there are no conflicts of interest present.