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Genet Couns. 2010;21(3):347-51.

Freeman-Sheldon (whistling face) syndrome with hyperpyrexia in the newborn: case report.

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Department of Neonatology, Selcuk University, Konya, Turkey.


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.

[Indexed for MEDLINE]

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