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

Abstract

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.

• Authors: H Altunhan, A Annagür, S Ertuğrul, S Pekcan, R Ors
• Journal: Genetic counseling (Geneva, Switzerland) (Genet Couns) Vol. 21 Issue 3 Pg. 347-51 ( 2010) ISSN: 1015-8146 [Print] Switzerland
• PMID: 20964128 (Publication Type: Case Reports, Journal Article)

Topics

• Abnormalities, Multiple (diagnosis, genetics)
• Arthrogryposis (diagnosis, genetics)
• Consanguinity
• Craniofacial Abnormalities (diagnosis, genetics)
• Deafness (diagnosis, genetics)
• Facies
• Fever (diagnosis, genetics)
• Fingers (abnormalities)
• Humans
• Infant, Newborn
• Male
• Micrognathism (diagnosis, genetics)
• Retrognathia (diagnosis, genetics)
• Turkey