Yenidoğan Döneminde Tanı Alan ve Hiperpireksi ile Seyreden Freeman-Sheldon Sendromu

Abstract

Freeman-Sheldon syndrome is a rare disorder, and its exact incidence is not unknown. The most important manifestation of this syndrome is typical “whistling-face “appearance. Patient with this disorder typically have multiple contractures in the hands and feet at birth (distal arthrogryposis tip 2A). These contractures lead to permanently bent fingers and toes, hand deformity in which all of the fingers are angled outward toward the fifth finger (ulnar deviation, also called “windmill vane hand”). We report a male newborn with Freeman- Sheldon syndrome and hyperpyrexia without anesthesia. No reason could be found to explain the high fever. The febrile episodes persisted all throughout the day and occurred in intervals and reached 40-41° C. The acute phase reactants in each episode of high fever were normal. There were no clinical or laboratory findings of infection during this hyperpyrexia. That case is the second Freeman- Sheldon syndrome without anestesia in the literature.