A rare case report of a cyclopian malformation

Authors

  • Shaloo Priya Department of Obstetrics and Gynaecology, Calcutta National Medical College and Hospital, Kolkata, West Bengal, India
  • Amitava Mukherjee Department of Obstetrics and Gynaecology, Calcutta National Medical College and Hospital, Kolkata, West Bengal, India
  • Rohit Singh Department of Surgical Gastroenterolgy, Gleneagles Global Hospital, Hyderabad, Telangana, India https://orcid.org/0000-0003-0959-0679

DOI:

https://doi.org/10.18203/2320-1770.ijrcog20230830

Keywords:

Cyclopia, Holoprosencephaly, Cyclopian malformation/monster, Stillbirth

Abstract

A rare form of median faciocerebral dysplasia, characterized by a single central orbital fossa with a tubular nose-like appendage above the orbit is known as cyclopian malformation/monster. It is the most severe form of alobar holoprosencephaly. Since most of these cases are sporadic, incompatible with life, and due to the limited literature knowledge, the exact etiology of this condition remains undetermined. However, various risk factors implicated include genetic factors and chromosomal anomalies (mostly trisomy D). Here we present a case of stillborn male cyclopian fetus born to a 34 year old 3rd gravida by caesarean section. There was no history of any drugs or alternative medicine intake (except iron-folic acid, calcium, thyroxin), radiation exposure, or a significant family history or consanguinity. Her only 33-week scan (done at a peripheral center) failed to identify any fetal abnormality. This case is reported because cyclopia is a rare/uncommon developmental anomaly especially with the advancement in antenatal ultrasonography to identify malformed fetuses early in pregnancy.

References

Taysi K, Tinaztepe K. Trisomy D and the cyclops malformation. Am J Dis Children. 1972;124(5):710-3.

Kiram H, Bouab M, Jalal M, Lamrissi A, Bouhya S. Cyclopia baby: Congenital lethal malformation: Rare case report. Int J Surg Case Rep. 2022;96:107309.

Palamenghi A, Biehler-Gomez L, Mattia M, Breda L, Cattaneo C. A probable case of holoprosencephaly with cyclopia in a full-term fetus from a modern skeletal collection. Int J Paleopathol. 2021;33:25-9.

Yadav SK, Giri A. Cyclopia: a rare congenital malformation. J Nobel Med College. 2018;7(2):70-3.

Toews HA, Jones Jr HW. Cyclopia in association with D trisomy and gonadal agenesis. Am J Obstetr Gynecol. 1968;102(1):53-6.

Roach E, Demyer W, Conneally PM, Palmer C, Merritt AD. Holoprosencephaly: birth data, benetic and demographic analyses of 30 families. Birth Defects Original Article Series. 1975;11(2):294-313.

Saunders ES, Shortland D, Dunn PM. What is the incidence of holoprosencephaly? J Med Genetics. 1984;21(1):21-6.

Hong M, Krauss RS. Ethanol itself is a holoprosencephaly-inducing teratogen. PLoS One. 2017;12(4):e0176440.

Funk KC, Siegel MJ. Sonography of congenital midline brain malformations. Radiographics. 1988;8(1):11-25.

Filly RA, Chinn DH, Callen PW. Alobar holoprosencephaly: ultrasonographic prenatal diagnosis. Radiology. 1984;151(2):455-9.

Barkovich AJ, Norman D. Absence of the septum pellucidum: a useful sign in the diagnosis of congenital brain malformations. Am J Roentgenol. 1989;152(2):353-60.

Mailath-Pokorny M, Kasprian G, Mitter C, Schöpf V, Nemec U, Prayer D. Magnetic resonance methods in fetal neurology. Seminars in Fetal Neonatal Med. 2012;17(5):278-84.

Salama GS, Kaabneh MA, Al-Raqad MK, Al-Abdallah IM, Shakkoury AG, Halaseh RA. Cyclopia: a rare condition with unusual presentation-a case report. Clin Med Insights Pediatr. 2015;9:CMPed-S21107.

Sharma D, Yadav J, Garg E. Cyclopia syndrome. Case Rep. 2014;2014:bcr2014203535.

Srinivasan KR, Joseph NA, Koteswary P. True Cyclopia-very rare anomaly. J Clin Diagnostic Res. 2014;8(8):AD01.

Wai LT, Chandran S. Cyclopia: isolated and with agnathia-otocephaly complex. Case Rep. 2017;2017:bcr-2017.

Singh K, Sharma S, Agarwal K, Kalra A. Cyclopia-otocephaly-agnathia-synotia-astomia complex: A case report. J Clin Neonatol. 2018;7(3):177.

Bullen PJ, Rankin JM, Robson SC. Investigation of the epidemiology and prenatal diagnosis of holoprosencephaly in the North of England. Am J Obstetr Gynecol. 2001;184(6):1256-62.

Raman R, Mukunda Jagadesh G. Antenatal diagnosis of alobar holoprosencephaly. Case Rep Radiol. 2014;2014.

Downloads

Published

2023-03-28

Issue

Section

Case Reports