Freeman-Sheldon (Whistling Face) Syndrome With Hyperpyrexia in the Newborn: Case Report
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Dosyalar
Tarih
2010
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Medecine Et Hygiene
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
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.
Açıklama
Anahtar Kelimeler
Freeman-Sheldon Syndrome, Whistling-Face Syndrome, Cranio-carpo-tarsal dysplasia, Distal Arthrogryposis Type 2A, hyperpyrexia
Kaynak
Genetic Counseling
WoS Q Değeri
Q4
Scopus Q Değeri
N/A
Cilt
21
Sayı
3
Künye
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.
