Cyclopia with proboscis
No relevant history. Third trimester obstetric scan.
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Cyclopia is a rare and lethal condition that is characterised by fused orbits, arrhinia and proboscis 1. It is most commonly seen in association with holoprosencephaly (alobar type) and Patau syndrome (trisomy 13) 3.
In holoprosencephaly due to abnormal development of embryonic forebrain which is responsible for inducing the development of the two orbits, only one orbit is developed. This eye is centrally placed in the area normally occupied by the root of the nose. The proboscis is a non functioning appendage seen attached to the forehead above the central eye 2.
Approximately 1.05 in 100,000 births including stillbirths are identified as cyclopean 4.
- 1. Ultrasound in Obstetrics and Gynecology. Thieme. (2005) ISBN:1588901475. Read it at Google Books - Find it at Amazon
- 2. Deftereou TE, Tsoulopoulos V, Alexiadis G et-al. Congenital disorder of true cyclopia with polydactylia: case report and review of the literature. Clin Exp Obstet Gynecol. 2014;40 (3): 460-2. Pubmed citation
- 3. Capobianco G, Cherchi PL, Ambrosini G et-al. Alobar holoprosencephaly, mobile proboscis and trisomy 13 in a fetus with maternal gestational diabetes mellitus: a 2D ultrasound diagnosis and review of the literature. Arch. Gynecol. Obstet. 2007;275 (5): 385-7. doi:10.1007/s00404-006-0264-6 - Pubmed citation
- 4. Cannistrá C, Barbet P, Parisi P et-al. Cyclopia: a radiological and anatomical craniofacial post mortem study. J Craniomaxillofac Surg. 2001;29 (3): 150-5. Pubmed citation