Occurrence of radial club hand in children with different syndromes

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Abstract


Aim. Clinical analysis of congenital radial club hand as part of some genetic syndromes as well as the optimization of methods of non-surgical and surgical treatment of patients with this pathology. Material and Methods. From 2007 to 2014, we conducted a survey of 170 children with congenital radial club hand. Among them, 32 patients were diagnosed (18.8%) with different syndromes. We assessed the degree to which the radius was underdeveloped among this group of patients as well as the management features of patients according to various comorbidities. Results. The assessment identified Holt-Oram syndrome in 17 children (nine boys and eight girls; 53.1%) and TAR-syndrome in nine children (four boys and five girls; 28.1%). VACTERL syndrome was detected in four male patients (12.5%) and Nagera syndrome was observed in two children (one boy and one girl; 6.25%). Surgical treatment of radial club hand in patients with genetic syndromes is the same as that of the patients with isolated congenital radial club hand: a single- or two-stage correction of the hand relative to the ulna with subsequent reconstruction of the rays of the hand. The duration of treatment of such patients did not significantly differ compared to the patients with isolated congenital radial club hand. Conclusion. Congenital radial club hand, identified as part of genetic syndromes, requires a comprehensive examination to diagnose comorbidities, observation, and treatment by specialists to determine the optimal age for surgical correction of the existing strain of the upper limb.

Natalia Valerievna Avdeichik

The Turner Scientific and Research Institute for Children’s Orthopedics

Email: natali_avdeichik@mail.ru
MD, PhD student of the department of reconstructive microsurgery and hand surgery. The Turner Scientific and Research Institute for Children's Orthopedics

Anton Vladimirovich Govorov

The Turner Scientific and Research Institute for Children’s Orthopedics

Email: agovorov@yandex.ru
MD, PhD, research associate of the department of reconstructive microsurgery and hand surgery. The Turner Scientific and Research Institute for Children’s Orthopedics

Sergei Ivanovich Golyana

The Turner Scientific and Research Institute for Children’s Orthopedics

Email: ser.golyana@yandex.ru
MD, PhD, head of the department of reconstructive microsurgery and hand surgery. The Turner Scientific and Research Institute for Children’s Orthopedics

Andrey Valerievich Safonov

The Turner Scientific and Research Institute for Children’s Orthopedics

Email: safo125@gmail.com
MD, PhD, chief of the department of reconstructive microsurgery and hand surgery. The Turner Scientific and Research Institute for Children’s Orthopedics

  1. Flatt AE. The Care of Congenital Hand Anomalies, 2d ed. St Louis: Quality Medical Publishing. 1994:366-410. doi: 10.1016/0266-7681(94)90269-0.
  2. Lamb DW. The treatment of radial club hand, absent radius, aplasia of the radius, hypoplasia of the radius, and radial paraxial hemimelia. Hand. 1972;4:22-30. doi: 10.1016/0072-968X(72)90004-6
  3. Urban MA, Osterman AL. Management of radial dysplasia. Hand Clin. 1990;6:589-605.
  4. Стариков О.В. Реконструктивно-восстановительное лечение врожденной косорукости по методу Г.А. Илизарова: дис.. канд. мед. наук. - Курган, 2002. [Starikov OV. Rekonstruktivno-vosstanovitel’noe lechenie vrozhdennoj kosorukosti po metodu G.A.Ilizarova [dissertation]. Kurgan; 2002. (In Russ).]
  5. Бочков Н.П. Клиническая генетика. - М.: ГЭОТАРТ-МЕД, 2002. [Bochkov NP. Klinicheskaya genetika. Moscow: GEHOTART-MED; 2002. (In Russ).]
  6. Барашнев Ю.И., Бахарев В.А., Новиков П.В. Диагностика и лечение врожденных и наследственных заболеваний у детей. - М.: Триада-Х, 2004. [Barashnev YI, Baharev VA, Novikov PV. Diagnostika i lechenie vrozhdennyh i nasledstvennyh zabolevanij u detej. Moscow: Triada-Х, 2004. (In Russ).]
  7. Прокопович В.С., Прокопович Е.С. К вопросу об этиопатогенезе врожденной косорукости у детей / Х юбилейный Российский национальный конгресс «Человек и его здоровье» (ортопедия-травматология-протезирование-реабилитация). Ноябрь 21-25, 2005; Санкт-Петербург. [Prokopovich VS, Prokopovich ES. K voprosu ob ehtiopatogeneze vrozhdennoj kosorukosti u detej. (Conference proceedigs) Х yubilejnyj Rossijskij Nacional’nyj kongress «Chelovek i ego zdorov’e» (ortopediya-travmatologiya-protezirovanie-reabilitaciya); nov 21-25; Saint-Petersburg. (In Russ).]
  8. Фищенко В.А. Врожденная и приобретенная косорукость у детей и подростков: дис.. канд. мед. наук. - Киев, 1985. [Fishchenko VA. Vrozhdennaya i priobretennaya kosorukost’ u detej i podrostkov. [dissertation] Kiev; 1985. (In Russ).]
  9. Greenhalg KL, Howell RT, Bottani A, et al. Thrombocytopenia-absent radius syndrome: a clinical genetic study. J Med Genet. 2002;39:876-881. doi: 10.1136/jmg.39.12.876
  10. Patel C, Silcock L, McMullan D, et al. TBX5 intragenec duplication: a famyly with an atypical Holt-Orama syndrome phenotype. Eur J Hum Genet. 2012;20(8):863-9. doi: 10.1038/ejhg.2012.16. Epub 2012 Feb 15.
  11. Mc Lauqhlin D, Hajduk P, Murphy P, et al. Adriamycin - Induced models of VACTERL association. Mol Syndromol. 2013;4(1-2):46-62. doi: 10.1159/000345579.
  12. Holt M., Oram S. Familial heart diasese with skeletal malformations. Br Heart J. 1960;22:236-42. doi: 10.1136/hrt.22.2.236.
  13. Джонс К. Наследственные синдромы по Дэвиду Смиту. - М.: Практика, 2011. - с. 302-305, 352-355, 376-385, 784-786. [Dzhons K. Nasledstvennye sindromy po Dehvidu Smitu. Moscow: Praktika, 2011. (In Russ).]
  14. Greenhalgh KL, Howell RT, Bottani A, Ancliff PJ, et al. Thrombocytopenia-absent radius syndrome: a clinical genetic study. J Med Genet. 2002;39:876-881. doi: 10.1136/jmg.39.12.876.
  15. Hall JG, Levin J, Kuhn JP, Ottenheimer EJ, et al. Thrombocytopenia with absent radius (TAR). Medicine. 1969;48:411-39.
  16. Прокопович В.С. Лечение врожденной косорукости при TAR-синдроме. Заболевания и повреждения верхних конечностей у детей. - Л., 1988. - с. 97-101. [Prokopovich VS. Lechenie vrozhdennoj kosorukosti pri TAR-sindrome. Zabolevaniya i povrezhdeniya verhnih konechnostej u detej. Leningrad; 1988. (In Russ).]
  17. Hedberg VA, Lipton JM. Thrombocytopenia absent radii. A review of 100 cases. Am J Pediatr Hematol/Oncol. 1988;10:51-64. doi: 10.1097/00043426-198821000-00010.
  18. Scott N. Oishi, Peter Carter, et al. Thrombocytopenia-absent radius syndrome: presence of brachiocarpalis muscle and it importance. J Hand Surg. 2009;34:1696-1699. doi: http://dx.doi.org/10.1016/j.jhsa.2009.06.025
  19. Newbury-Ecob RA, Leanage R, Raeburn JA, Young ID. Holt-Oram syndrome: a clinical genettic study. J Med Genet. 1996;33(4):300-307. doi: 10.1136/jmg.33.4.300.
  20. Wattanasirichaigoon D, Prasad C, Schneider G, et al. Rib defects in patterns of multiple malformations: A retrospective review and phenotypic analysis of 47 cases. Am J Medical Genetics. 2003;122(1):63-9. doi: 10.1002/ajmg.a.20241.
  21. Solomon BD, Pineda-Alvarez DE, et al. Analysis of component findings in 79 patients diagnosed with VACTERL association. Am J Med Genet. 2010;152:2236-2244. doi: 10.1002/ajmg.a.33572.
  22. Sunagawa S, Kikuchi A, et al. Prenatal diagnosis of Holt-Oram syndrome: Role of 3-D ultrasonography J Congenital Anomalies. 2009;49:38-41. doi: 10.1111/j.1741-4520.2008.00211.x.
  23. Muller LM, De Jong G, Van Heerden KM. The antenatal ultrasonographic detection of the Holt-Oram syndrome. S Afr Med J. 1985;68:313.

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Copyright (c) 2015 Avdeichik N.V., Govorov A.V., Golyana S.I., Safonov A.V.

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