Freeman-Sheldon (Whistling Face) Syndrome With Hyperpyrexia in the Newborn: Case Report
dc.contributor.author | Altunhan, Hüseyin | |
dc.contributor.author | Annagür, A. | |
dc.contributor.author | Ertuğrul, S. | |
dc.contributor.author | Pekcan, Sevgi | |
dc.contributor.author | Örs, R. | |
dc.date.accessioned | 2020-03-26T17:48:50Z | |
dc.date.available | 2020-03-26T17:48:50Z | |
dc.date.issued | 2010 | |
dc.department | Selçuk Üniversitesi | en_US |
dc.description.abstract | Freeman-Sheldon (whistling face) syndrome with hyperpyrexia in the newborn: case report: Freeman-Sheldon syndrome (FSS) is a rare, multiple congenital contracture syndrome that is relatively well-known, since affected children have a striking appearance. This entity was historically referred to as the "whistling-face syndrome". Malignant hyperthermia and hyperpyrexia have been documented in FSS after general anesthesia related to the neuropathy. We report a male neonate with FSS and hyperpyrexia without anesthesia. To our knowledge, our patient is the first in the literature with hyperpyrexia in the newborn period without anesthesia. | en_US |
dc.identifier.citation | Altunhan, H., Annagür, A., Ertuğrul, S., Pekcan, S., Örs, R., (2010). Freeman-Sheldon (Whistling Face) Syndrome With Hyperpyrexia in the Newborn: Case Report. Genetic Counseling, 21(3), 347-351. | |
dc.identifier.endpage | 351 | en_US |
dc.identifier.issn | 1015-8146 | en_US |
dc.identifier.issue | 3 | en_US |
dc.identifier.pmid | 20964128 | en_US |
dc.identifier.scopusquality | N/A | en_US |
dc.identifier.startpage | 347 | en_US |
dc.identifier.uri | https://hdl.handle.net/20.500.12395/24948 | |
dc.identifier.volume | 21 | en_US |
dc.identifier.wos | WOS:000282665700013 | en_US |
dc.identifier.wosquality | Q4 | en_US |
dc.indekslendigikaynak | Web of Science | en_US |
dc.indekslendigikaynak | Scopus | en_US |
dc.indekslendigikaynak | PubMed | en_US |
dc.institutionauthor | Altunhan, Hüseyin | |
dc.institutionauthor | Annagür, A. | |
dc.institutionauthor | Ertuğrul, S. | |
dc.institutionauthor | Pekcan, Sevgi | |
dc.institutionauthor | Örs, R. | |
dc.language.iso | en | en_US |
dc.publisher | Medecine Et Hygiene | en_US |
dc.relation.ispartof | Genetic Counseling | en_US |
dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı | en_US |
dc.rights | info:eu-repo/semantics/openAccess | en_US |
dc.selcuk | 20240510_oaig | en_US |
dc.subject | Freeman-Sheldon Syndrome | en_US |
dc.subject | Whistling-Face Syndrome | en_US |
dc.subject | Cranio-carpo-tarsal dysplasia | en_US |
dc.subject | Distal Arthrogryposis Type 2A | en_US |
dc.subject | hyperpyrexia | en_US |
dc.title | Freeman-Sheldon (Whistling Face) Syndrome With Hyperpyrexia in the Newborn: Case Report | en_US |
dc.type | Article | en_US |
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