A Gujjar patient presented for routine antenatal ultrasound in third trimester for the first time.
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Cyclopia is an extremely rare type of congenital malformation & is part of a spectrum of anomalies occurring in holoprosencephaly.
This group of congenital anomalies occurs due to to abnormal differentiation & cleavage of the prosencephalon. There is anomalous formation of the central cavity of the orbit, with absence of the nasal cavity. A rudimentary bony process is formed over the orbital cavity called proboscis.
True cyclopia is an extreme form, where only a single orbit is present. But two globes may be found in different degrees of fusion, called synopthalmos.
Associated mid line facial deformities like midfacial clefts, primitive nasal structures & hypotelorism, may be there.
- 1. Bangma M, Lunshof S, Opstal DV et-al. Prenatal diagnosis of alobar holoprosencephaly, cyclopia, proboscis, and isochromosome 18q in the second trimester. AJP Rep. 2011;1 (02): 73-6. doi:10.1055/s-0031-1280850 - Free text at pubmed - Pubmed citation
- Cyclopia Case contributed by Dr Vodithala Pavann Kumar