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

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

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.

Publication types

  • Case Reports

MeSH terms

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