cyclopia

Cyclopia refers to a rare fetal malformation characterized by a single palpebral fissure and a single midline orbit. This orbit may contain either a single globe or two separate globe.

Epidemiology

The condition is thought to affect approximately 1 in 40,000 to 95,000 births (inclusive of stillbirths)

Pathology

It results from a deficient development of the superior precordial segment with an associated underdevelopment of the oro-nasal cavity . There is a severe error in prosencephalic development.

Associations

• proboscis
• severe brain malformations

Cyclopia can also occur as part of the spectrum of

• alobar holoprosencephaly 
• trisomy 13 

Possible associations

• Smith-Lemli-Opitz syndrome

Radiographic features

Antenatal ultrasound

May be seen with targeted imaging of the fetal face where a common orbit may be seen in the upper half of the face.

Prognosis

Cyclopia is essentially incompatible with life .

Etymology

Derived from the Greek word 'cyclopes' meaning 'ring-eyed' .

See also

• synopthalmia

Siehe auch:

• Pätau-Syndrom
• proboscis
• Smith-Lemli-Opitz-Syndrom
• alobäre Holoprosencephalie