Title: Clinical and Cytogenetic Analysis of a Baby with Vestigial Tail and Limb Defects

Authors: Deepthy Vijayaraghavan, Cyril Joseph, Alex George

 DOI:  https://dx.doi.org/10.18535/jmscr/v6i7.94

Abstract

Vestigial tail otherwise called the neuroectodermal appendage is a rare occurrence. Very few cases have been reported in literature. Several congenital anomalies may coexist with vestigial tails. Associated cutaneous stigmata like dermal sinus, lipoma, hyperpigmented skin, hair patch have also been documented. In this study an attempt has been made to investigate the clinical and cytogenetic profile of a female infant with a tail like structure in the lumbosacral region associated with multiple limb defects. Cytogenetic profiles of family members were studied by performing karyotype analysis to look for chromosome level involvement in the development of this condition. The cytogenetic profiles were found to be normal. The tail was excised successfully without neurological deficits and limb defects were surgically corrected.

Keywords- Vestigial tail, Limb defects, Symbrachydactyly, Club foot, Karyotyping

References

  1. Odeku EL, Adeloye A. A case of human pseudo-tail. West Afr Med J Niger Med Dent Pract. 1970; 19(4):115.
  2. Dao AH, Netsky MG. Human tails and pseudotails. Hum Pathol. 1984; 15(5):449-53.
  3. Spiegelmann R, Schinder E, Mintz M, Blakstein A. The human tail: a benign stigma: case report. J Neurosurg. 1985; 63(3):461-2.
  4. Sadler TW. Langman's Medical Embryology. 11 th New Delhi: Wolters Kluwer South Asian Edition, 2010: 127-45
  5. Donovan DJ, Pedersen RC. Human tail with noncontiguous intraspinal lipoma and spinal cord tethering: case report and embryologic discussion. PediatrNeurosurg. 2005; 41(1):35-40.
  6. Redin C, Brand H, Collins RL, Kammin T, Mitchell E, Hodge JC, Hanscom C, Pillalamarri V, Seabra CM, Abbott MA, Abdul-Rahman OA. The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies. Nat Genet. 2017; 49(1):36.
  7. Gaskill SJ, Marlin AE. Neuroectodermal appendages: the human tail explained. PediatrNeurosurg. 1989; 15(2):95-9.
  8. Belzberg AJ, Myles ST, Trevenen CL. The human tail and spinal dysraphism. J Pediatr Surg. 1991; 26(10):1243-5.
  9. Parsons RW. Human tails. PlastReconstr Surg. 1960; 25(6):618-21.
  10. Kansal R, Agrawal N, Khare S, Khare A, Jain S, Singhal BM. Newborn with tail-a genetic throwback.People’s Journal of Scientific Research. 2010; 3(1):15-17
  11. Lu FL, Wong PJ, Teng RJ, Yau KAI., “The human tail. Pediatr Neurol1998;19(3):230-3.
  12. Matsuo T, Koga H, Moriyama T, Yamashita H, Imazato K, Kondo M. A case of true human tail accompanied with spinal lipoma. No ShinkeiGeka. 1993; 21(10):925-9.
  13. Park SH, Huh JS, Cho KH, Shin YS, Kim SH, Ahn YH, Cho KG, Yoon SH. Teratoma in human tail lipoma. Pediatr Neurosurg. 2005; 41(3):158-61.
  14. Chauhan SP, Gopal NN, Jain M, Gupta A. Human tail with spina bifida. Br J Neurosurg. 2009; 23(6):634-5.
  15. Raines MD, Wills ML, Jackson GP. Imperforate anus with a rectovestibular fistula and pseudotail: a case report. J Med Case Rep. 2010;4(1):317.
  16. Puvabanditsin S, Garrow E, Gowda S, Joshi-Kale M, Mehta R. A gelatinous human tail with lipomyelocele: case report. J ChildNeurol. 2013; 28(1):124-7.
  17. Wilson L, Maden M. The mechanisms of dorsoventral patterning in the vertebrate neural tube. Dev Biol. 2005; 282(1):1-3.
  18. Ybot-Gonzalez P, Gaston-Massuet C, Girdler G, Klingensmith J, Arkell R, Greene ND, Copp AJ. Neural plate morphogenesis during mouse neurulation is regulated by antagonism of Bmp signalling. Development. 2007;134(17):3203-11.
  19. Riddle RD, Johnson RL, Laufer E, Tabin C. Sonic hedgehog mediates the polarizing activity of the ZPA. Cell. 1993; 75(7):1401-16.
  20. Fallon JF, Crosby GM. Vertebrate limb and somite morphogenesis: Polarizing zone activity in limb buds of amniotes. Symposium (3), British Society for Developmental Biology.  1977; 55-69.
  21. Odent S, Attié-Bitach T, Blayau M, Mathieu M, Augé J, Delezoïde AL, Le Gall JY, Le Marec B, Munnich A, David V, Vekemans M. Expression of the Sonic hedgehog (SHH) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly. Hum mol gen. 1999; 8(9):1683-9.
  22. Wolpert L. Positional information and the spatial pattern of cellular differentiation. J Theor Biol. 1969; 25(1):1-47.

Corresponding Author

Alex George

Jubilee Centre for Medical Research, Jubilee Mission Medical College & Research Institute, Thrissur, Kerala – 68000