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[Parinaud syndrome caused by corpus pineale tumour in a 14-year-old boy]

Autor: Sofie, Jandorf, Tarek, Belal, Christos, Christakopoulos

Publikováno v: Ugeskrift for laeger. 180(43)

Parinaud syndrome (PS) can manifest in a pineal tumour. Major components of PS include restriction of gazing upwards, light-near dissociation and convergence retraction nystagmus. A 14-year-old boy presented with diplopia and restricted ability to ga

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::ea43129b673dd8501b478ae1706588ea
https://pubmed.ncbi.nlm.nih.gov/30375957

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Case 1: Microcephaly, Skeletal Dysplasia, and Immunodeficiency in a Newborn

Autor: Tarek Belal, Debra-Lynn Day-Salvatore, Janet Malcolmson

Publikováno v: Pediatrics in review. 39(7)

1. Tarek Belal, MD* 2. Debra-Lynn Day-Salvatore, MD, PhD, FAAP, FACMG† 3. Janet Malcolmson, MS, LGC† 1. *Pediatric Hospitalist, Mount Washington Pediatric Hospital, Baltimore, MD 2. †Department of Medical Genetics and Genomic Medicine, Saint Pe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e792584a1b0ec4ed307a2df585180ab9
https://pubmed.ncbi.nlm.nih.gov/29967080

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