Exposure, entropion, and bilateral corneal ulceration in a newborn as a manifestation of chromosome 22 q11.2 duplication syndrome

PURPOSE: 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...

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Detalles Bibliográficos
Autores principales: Moein, Hamid-Reza, Saeed, Hajirah N., Jacobs, Deborah S., Rapoport, Yuna, Yoon, Michael K., Shah, Ankoor S., Khan, Haumith, Raoof, Duna, Jurkunas, Ula V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2018
Materias:
Case report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6247406/
https://www.ncbi.nlm.nih.gov/pubmed/30505980
http://dx.doi.org/10.1016/j.ajoc.2018.11.001

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6247406/
https://www.ncbi.nlm.nih.gov/pubmed/30505980
http://dx.doi.org/10.1016/j.ajoc.2018.11.001

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