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.
Department of Neonatology, Selcuk University, Konya, Turkey. haltunhan@hotmail.com
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Altunhan
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Annagür
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Ertuğrul
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Pekcan
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Ors
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D001176:Arthrogryposis / Q000175:diagnosis / Q000235:genetics*; D003241:Consanguinity; D019465:Craniofacial Abnormalities / Q000175:diagnosis / Q000235:genetics*; D003638:Deafness / Q000175:diagnosis / Q000235:genetics; D019066:Facies; D005334:Fever / Q000175:diagnosis / Q000235:genetics*; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008844:Micrognathism / Q000175:diagnosis / Q000235:genetics*; D063173:Retrognathia / Q000175:diagnosis / Q000235:genetics*; D014421:Turkey