| Literature DB >> 32394010 |
Kanya Singhapakdi1, Paul Maertens2, Juan Gonzalez1, Peter Soh2, Ramachandra Bhat3, Om Prakash Jha4.
Abstract
Congenital anophthalmia is rare and can occur due to various etiologies, including genetic defects, teratogenic exposures, and vascular disruptions. We report a rare case of right-sided congenital anophthalmia and hemicerebral dysgenesis in association with ipsilateral hemicerebral vascular dysgenesis in a neonate. Postnatal neuroimaging was conspicuous for a "bare orbit sign." A unilateral cranial neurocristopathy was suspected to be an underlying etiopathology for such a diffuse defect.Entities:
Keywords: And siphon aplasia; Anophthalmia; Arhinencephaly; Bare orbit sign; Diencephalic-mesencephalic junction dysplasia; Neonate
Mesh:
Year: 2020 PMID: 32394010 DOI: 10.1007/s00381-020-04639-x
Source DB: PubMed Journal: Childs Nerv Syst ISSN: 0256-7040 Impact factor: 1.475