%0 Journal Article
%T Exposure, entropion, and bilateral corneal ulceration in a newborn as a manifestation of chromosome 22 q11.2 duplication syndrome
%A Ankoor S. Shah
%A Deborah S. Jacobs
%A Duna Raoof
%A Hamid-Reza Moein
%A Haumith Khan
%A Michael K. Yoon
%A Ula V. Jurkunas
%A Yuna Rapoport
%J Archive of "American Journal of Ophthalmology Case Reports".
%D 2019
%R 10.1016/j.ajoc.2018.11.001
%X Chromosome 22q11.2 micro-duplication syndrome (MDS), is a rare autosomal dominant condition, with a highly variable phenotype that ranges from unremarkable and asymptomatic, to fatal due to cardiovascular defects. Hypertelorism, downslanting palpebral fissures, superior displacement of the eyebrows, and ptosis are the most commonly reported ocular manifestations. Here, we report a newborn with bilateral exposure, entropion, and corneal ulceration related to 22q11.2 MDS
%K Chromosome 22q11.2 duplication syndrome
%K Corneal ulcer
%K Congenital entropion
%K Lagophthalmos
%K Partial tarsorrhaphy MDS
%K Microduplication syndrome
%U https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6247406/