Congenital malformations of hands and feet in Smith-Lemli-Opitz syndrome

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Smith-Lemli-Opitz syndrome is rare genetic disorder with multiple limb malformations and neurological manifestation, caused by inborn defect of cholesterol metabolism. Congenital deformities of feet and hands are most common orthopedic symptoms in this syndrome. Description of a girl with Smith-Lemli-Opitz syndrome demonstrates specific features of this disorder and emphasize the importance of proper interpretation of orthopedic malformations for early diagnosis of genetic conditions.

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N. Kovalenko-Klychkova

Turner Scientific and Research Institute for Children’s Orthopedics

编辑信件的主要联系方式.
Email: n-kovalenko85@mail.ru
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V. Kenis

Turner Scientific and Research Institute for Children’s Orthopedics

Email: kenis@mail.ru
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I. Klychkova

Turner Scientific and Research Institute for Children’s Orthopedics

Email: klyckova@yandex.ru
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参考

  1. Семячкина А.Н., Новиков П.В., Яблонская М.И., Курбатов М.Б., Вассерман Н.Н., Тверская С.М. Синдром Смита — Лемли — Опица у детей. Российский вестник перинатологии и педиатрии. 2006; 51(3): 19-24
  2. Федотов В.П., Плотко И.С., Качанова Т.И., Федотова Т.В., Джукаев Р.А., Рублева О.В. Возможности объемной эхографии в пренатальной ультразвуковой идентификации синдрома Смита-Лемли-Опица. Пренатальная диагностика. 2009; (4): 315-319
  3. Al-Owain M., Imtiaz F., Shuaib T. et al. Smith-Lemli-Opitz syndrome among Arabs. Clin. Genet. 2012; 82(2): 165-172.
  4. Andersson H.C., Frentz J., Martinez J. E., Tuck-Muller C.M., Bellizaire J. Adrenal insufficiency in Smith-Lemli-Opitz syndrome. Am. J. Med. Genet. 1999; (82): 382-384.
  5. Bianconi S.E., Conley S.K., Keil M.F. et al. Adrenal function in Smith-Lemli-Opitz syndrome. Am. J. Med. Genet. A. 2011; 155-A(11): 2732-2738.
  6. Bukelis I., Porter F.D., Zimmerman A.W., Tierney E. Smith-Lemli-Opitz syndrome and autism spectrum disorder. Am. J. Psychiatry. 2007; (164): 1655-1661.
  7. Fine R.N., Gwinn J.L., Young E.F. Smith-Lemli-Opitz syndrome. Radiologic and postmortem findings. Am. J. Dis. Child. 1968; (115): 483-488.
  8. Gelzo M., Dello Russo A., Corso G. Stability study of dehydrocholesterols in dried spot of blood from patients with Smith-Lemli-Opitz syndrome, using filter paper treated with butylated hydroxytoluene. Clin. Chim. Acta. 2012; 18(413): 525-526.
  9. Kelley R.I., Hennekam R.C.M. The Smith-Lemli-Opitz syndrome (Review article). J. Med. Genet. 2000; (37): 321-335.
  10. Koo G., Conley S. K., Wassif C.A., Porter F.D. Discordant phenotype and sterol biochemistry in Smith-Lemli-Opitz syndrome. Am. J. Med. Genet. 2010; 152-A(8): 2094-2098.
  11. Kratz L.E., Kelley R.I. Prenatal diagnosis of the RSH/ Smith-Lemli-Opitz syndrome. Am. J. Med. Genet. 1999; (82): 376-381.
  12. Nowaczyk M.J., Tan M., Hamid J.S., Allanson J.E. Smith-Lemli-Opitz syndrome: Objective assessment of facial phenotype. Am. J. Med. Genet. 2012; 158-A(5): 1020-1028.
  13. Quélin C., Loget P., Verloes A. et al. Phenotypic spectrum of fetal Smith-Lemli-Opitz syndrome. Eur. J. Med. Genet. 2012; 55(2): 81-90.
  14. Ren G., Jacob R.F., Kaulin Y. et al. Alterations in membrane caveolae and BKCa channel activity in skin fibroblasts in Smith-Lemli-Opitz syndrome. Mol. Genet. Metab. 2011; 104(3): 346-355.
  15. Sikora D.M., Pettit-Kekel K., Penfield J., Merkens L.S., Steiner R.D. The near universal presence of autism spectrum disorders in children with Smith-Lemli-Opitz syndrome. Am. J. Med. Genet. 2006; (15): 1511-1513.
  16. Smith D.W., Lemli L., Opitz J.M. A newly recognized syndrome of multiple congenitalanomalies. J. Pediatr. 1964; (64): 210-217.
  17. Tierney E., Conley S.K., Goodwin H. et al. Analysis of short-term behavioral effects of dietary cholesterol supplementation. Am. J. Med. Genet. 2010; 152-A(1): 91-95.
  18. Witsch-Baumgartner M., Ogorelkova M., Kraft H.G. et al. Mutational spectrum and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome. Am. J. Hum. Genet. 2000; (66): 402-412.
  19. Yu H., Patel S.B. Recent insights into the Smith-Lemli-Opitz syndrome. Clin. Genet. 2005; (68): 383-391.
  20. Zarowski M., Vendrame M., Irons M., Kothare S.V. Prevalence of sleep problems in Smith-Lemli-Opitz syndrome. Am. J. Med. Genet. 2011; 155-A(7): 1558-1562.

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