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.
Altunhan
H
H
Department of Neonatology, Selcuk University, Konya, Turkey. haltunhan@hotmail.com
Annagür
A
A
Ertuğrul
S
S
Pekcan
S
S
Ors
R
R
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