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CASE REPORT

Bilateral Upper Limb Complete Phocomelia: A Case Report

ORCID Icon, ORCID Icon, ORCID Icon, , &
Pages 167-171 | Received 13 Dec 2022, Accepted 04 Mar 2023, Published online: 14 Mar 2023

References

  • Bermejo‐Sánchez E, Cuevas L, Amar E, et al. Phocomelia: a worldwide descriptive epidemiologic study in a large series of cases from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature. In: American Journal of Medical Genetics Part C: Seminars in Medical Genetics. Wiley Online Library; 2011.
  • Dunn P, Fisher A, Kohler H. Phocomelia. Am J Obstet Gynecol. 1962;84(3):348–355. doi:10.1016/0002-9378(62)90131-X
  • Samal SK, Rathod S, Ghose S. Tetra-phocomelia: the seal limb deformity-a case report. J Clin Diagn Res. 2015;9(2):QD01.
  • Goh ESY, Li C, Horsburgh S, et al. The Roberts syndrome/SC phocomelia spectrum—a case report of an adult with review of the literature. Am J Med Genet A. 2010;152(2):472–478. doi:10.1002/ajmg.a.33261
  • Chitayat D, Stalker HJ, Vekemans M, et al. Phocomelia, oligodactyly, and acrania: the Schinzel‐Phocomelia syndrome. Am J Med Genet. 1993;45(3):297–299. doi:10.1002/ajmg.1320450304
  • Frantz CH, O’Rahilly R. Congenital skeletal limb deficiencies. JBJS. 1961;43(8):1202–1224. doi:10.2106/00004623-196143080-00012
  • Chakre GS, Chakre S, Kulkarni P. Phocomelia syndrome-a case report. JKIMSU. 2012;1:150–151.
  • Dar IH, Dar M, Farooq O, et al. Phocomelia: case report of a rare congenital disorder. Egypt J Dermatol Venerol. 2015;35(2):82. doi:10.4103/1110-6530.162227
  • Osadsky CR. Phocomelia: case report and differential diagnosis. Radiol Case Rep. 2011;6(4):561. doi:10.2484/rcr.v6i4.561
  • Van Den Berg DJ, Francke U. Roberts syndrome: a review of 100 cases and a new rating system for severity. Am J Med Genet. 1993;47(7):1104–1123. doi:10.1002/ajmg.1320470735
  • Vega H, Waisfisz Q, Gordillo M, et al. Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion. Nat Genet. 2005;37(5):468–470. doi:10.1038/ng1548
  • Herrmann J, Opitz JM. The SC phocomelia and the Roberts syndrome: nosologic aspects. Eur J Pediatr. 1977;125(2):117–134. doi:10.1007/BF00489985
  • Vargesson N. Thalidomide‐induced limb defects: resolving a 50‐year‐old puzzle. Bioessays. 2009;31(12):1327–1336. doi:10.1002/bies.200900103
  • Moore K, Persaud T, Torchia M. Textbook of essentials of embryology and birth defects. In: The Musculoskeletal System. 7th ed. Phildelphia: John F. Kennedy; 2008:248.
  • Hu J, Du W, Fang X, et al. A case of trisomy 18 presenting with severe facial abnormality and phocomelia. Int J Hum Genet. 2012;12(4):325–327. doi:10.1080/09723757.2012.11886187
  • Subhani M, Akangire G, Kulkarni A, et al. Al‐Awadi/Raas‐Rothschild/Schinzel (AARRS) phocomelia syndrome: case report and developmental field analysis. Am J Med Genet A. 2009;149(7):1494–1498. doi:10.1002/ajmg.a.32890
  • Naghi I, Behnam B, Behnam B. Roberts-SC phocomelia syndrome (Pseudothalidomide Syndrome): a case report. J Family Reprod Health. 2013;7:45–47.
  • World Health Organization. WHO Antenatal Care Recommendations for a Positive Pregnancy Experience: Maternal and Fetal Assessment Update: Imaging Ultrasound Before 24 Weeks of Pregnancy. World Health Organization; 2022.
  • Gabbe SG, Niebyl JR, Simpson JL, et al. Obstetrics: Normal and Problem Pregnancies e-Book. Elsevier Health Sciences; 2016.