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Polymelia (thoracomelia), an extremely rare appearance of congenital anomalic limb in a Nepalese child and its embryological basis

  • Ameet Kumar Jha (Department of Anatomical Sciences, St. Matthew's University School of Medicine) ;
  • Samal Nauhria (Department of Pathology, St. Matthew's University School of Medicine) ;
  • Sabyasachi Maity (Department of Physiology, Neurosciences and Behavioral Sciences, St. George's University School of Medicine)
  • Received : 2023.06.30
  • Accepted : 2023.08.11
  • Published : 2023.12.31

Abstract

Polymelia is an extremely rare congenital anomaly where an individual is born with an abnormally developed extra or supernumerary limb which is generally shrunken and functionless. A case of thoracomelia (a type of polymelia) was observed macroscopically and confirmed radiologically in 1.5 years old boy born in Nepal with an abnormal supernumerary upper limb attached to his back in the thoracic region. The limb was successfully amputated, and the boy had a favorable outcome after surgical treatment, without any adverse effects or impairment. Understanding the embryogenesis of thoracomelia is essential for unraveling the complex mechanisms underlying this condition and potentially aiding in early diagnosis and intervention. This case report and review aims to shed light on the intricate processes governing forelimb formation and their perturbations leading to thoracomelia.

Keywords

References

  1. Silva ES, Mustafa VS, Sa PA, Campebell RC. Thoracomelia in sheep: a case report. Braz J Vet Med 2020;42:e108220.
  2. Morath-Huss U, Drogemuller C, Stoffel M, Precht C, Zanolari P, Spadavecchia C. Polymelia in a chimeric Simmental calf: nociceptive withdrawal reflex, anaesthetic and analgesic management, anatomic and genetic analysis. BMC Vet Res 2019;15:102.
  3. Pitchaiah G, Pushpalatha E. Pathogenesis of horrifying rare genetic disorders in humans - a review. Pharma Innov 2017;6:85-9.
  4. Park KB, Kim YM, Park JY, Chung ML, Jung YJ, Nam SH. An accessory limb with an imperforate anus. Ann Surg Treat Res 2014;87:213-6.
  5. Munif MR, Safawat MS, Hannan A. Surgical correction of polymelia in the perineal region of a 2-day-old indigenous bovine calf: a case report from Bangladesh. Bull Natl Res Cent 2023;47:9.
  6. Kelani AB, Moumouni H, Issa AW, Younsaa H, Fokou H, Sani R, Sanoussi S, Denholm LJ, Beever JE, Catala M. Notomelia and related neural tube defects in a baby born in Niger: case report and literature review. Childs Nerv Syst 2017;33:529-34. Erratum in: Childs Nerv Syst 2017;33:2065.
  7. Scholl C, Thacker P. A rare sonographic case of caudal duplication versus polymelia. J Diagn Med Sonogr 2021;37:180-3.
  8. Salameh K, Al-Bedaywi R, Elkabir NA, Valappil RP, Vellamgot A, Habboub L. Duplicate tail like right lower limb: a rare congenital malformation. J Pediatr Neonatal 2020;2:1-3.
  9. Montalvo N, Redroban L, Espin VH. Incomplete duplication of a lower extremity (polymelia): a case report. J Med Case Rep 2014;8:184.
  10. Verma S, Khanna M, Tripathi VN, Yadav NC. Occurrence of polymelia in a female child. J Clin Imaging Sci 2013;3:18.
  11. Kim C, Yeo S, Cho G, Lee J, Choi M, Won C, Kim J, Lee S. Polymelia with two extra forelimbs at the right scapular region in a male Korean native calf. J Vet Med Sci 2001;63:1161-4.
  12. Roberts DJ, Tabin C. The genetics of human limb development. Am J Hum Genet 1994;55:1-6.
  13. Scherz PJ, Harfe BD, McMahon AP, Tabin CJ. The limb bud Shh-Fgf feedback loop is terminated by expansion of former ZPA cells. Science 2004;305:396-9.
  14. Zhao L, Li MQ, Sun XT, Ma ZS, Guo G, Huang YT. Congenital lumbosacral limb duplication: a case report. J Orthop Surg (Hong Kong) 2006;14:187-91.
  15. Lovely AM, Duerr TJ, Qiu Q, Galvan S, Voss SR, Monaghan JR. Wnt signaling coordinates the expression of limb patterning genes during axolotl forelimb development and regeneration. Front Cell Dev Biol 2022;10:814250.