Cyclopia with proboscis

Case contributed by Dr Rupesh Namdev


No relevant history. Third trimester obstetric scan.

Patient Data

Gender: Female

The B-mode and surface rendered 3D images show a single midline orbit containing one globe (cyclopia) with a proboscis like nose with no nostrils. Also the fetus had alobar holoprosencephaly. No associated cardiac or intraabdominal anomaly was seen.

Case Discussion

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.

It may sometimes also be associated with cardiac defects (atrial septal defect, hypoplastic left heart, anomalous communication between right ventricle and aorta) 3.

Approximately 1.05 in 100,000 births including stillbirths are identified as cyclopean 4.

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Case information

rID: 27256
Published: 25th Jan 2014
Last edited: 24th Sep 2017
System: Obstetrics
Inclusion in quiz mode: Included

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