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Freeman-Sheldon (whistling face) syndrome with hyperpyrexia in the newborn: case report.
Genet Couns. 2010; 21(3):347-51.GC

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+Show Affiliations

Altunhan H
Department of Neonatology, Selcuk University, Konya, Turkey. haltunhan@hotmail.com
Annagür A
No affiliation info available
Ertuğrul S
No affiliation info available
Pekcan S
No affiliation info available
Ors R
No affiliation info available

MeSH

Abnormalities, MultipleArthrogryposisConsanguinityCraniofacial AbnormalitiesDeafnessFaciesFeverFingersHumansInfant, NewbornMaleMicrognathismRetrognathiaTurkey

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

20964128

Citation

Altunhan, H, et al. "Freeman-Sheldon (whistling Face) Syndrome With Hyperpyrexia in the Newborn: Case Report." Genetic Counseling (Geneva, Switzerland), vol. 21, no. 3, 2010, pp. 347-51.
Altunhan H, Annagür A, Ertuğrul S, et al. Freeman-Sheldon (whistling face) syndrome with hyperpyrexia in the newborn: case report. Genet Couns. 2010;21(3):347-51.
Altunhan, H., Annagür, A., Ertuğrul, S., Pekcan, S., & Ors, R. (2010). Freeman-Sheldon (whistling face) syndrome with hyperpyrexia in the newborn: case report. Genetic Counseling (Geneva, Switzerland), 21(3), 347-51.
Altunhan H, et al. Freeman-Sheldon (whistling Face) Syndrome With Hyperpyrexia in the Newborn: Case Report. Genet Couns. 2010;21(3):347-51. PubMed PMID: 20964128.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Freeman-Sheldon (whistling face) syndrome with hyperpyrexia in the newborn: case report. AU - Altunhan,H, AU - Annagür,A, AU - Ertuğrul,S, AU - Pekcan,S, AU - Ors,R, PY - 2010/10/23/entrez PY - 2010/10/23/pubmed PY - 2010/12/14/medline SP - 347 EP - 51 JF - Genetic counseling (Geneva, Switzerland) JO - Genet Couns VL - 21 IS - 3 N2 - 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. SN - 1015-8146 UR - https://www.unboundmedicine.com/medline/citation/20964128/Freeman_Sheldon__whistling_face__syndrome_with_hyperpyrexia_in_the_newborn:_case_report_ L2 - http://www.diseaseinfosearch.org/result/2921 DB - PRIME DP - Unbound Medicine ER -