Cyclopia: isolated and with agnathia-otocephaly complex.

BMJ Case Rep

Adj Asst Professor , Department of Neonatology, Duke NUS Medical School, Singapore.

Published: August 2017

AI Article Synopsis

  • Cyclopia is a rare condition resulting from incomplete development of the brain during pregnancy, specifically leading to a single eye instead of two.
  • The report includes two cases: one with just cyclopia and another with cyclopia combined with a severe malformation called agnathia-otocephaly complex, which involves underdeveloped or absent jaw and other facial features.
  • Both cases shared similarities of a single eye and a type of brain malformation, with one child being born alive and the other stillborn; notably, neither mother received prenatal care.

Article Abstract

Cyclopia is a rare form of lethal holoprosencephaly (HPE) due to incomplete cleavage of prosencephalon during embryogenesis, leading to failure of the orbits of the eye to divide into two cavities. We report two cases, one with cyclopia and another case of cyclopia with agnathia-otocephaly complex (AOC). AOC (also known as agnathia-microstomia-synotia syndrome) is a rare lethal congenital malformation of the first branchial arch characterised by the association of agnathia (agenesis of mandible) or mandibular hypoplasia, melotia (anteromedial malposition of ears), microstomia (small mouth), aglossia or microglossia (absent or rudimentary tongue). These two reported cases had in common a single eye and alobar HPE. The first case was live born and the second stillborn. Both mothers did not have antenatal care.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5589031PMC
http://dx.doi.org/10.1136/bcr-2017-220159DOI Listing

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