Tanyeri Bayraktar, BilgeBayraktar, SüleymanArslan, HüseyinÇakır, Fatma Betül10.07.20192019-07-1010.07.20192019-07-102016Tanyeri Bayraktar, B., Bayraktar, S., Arslan, H. ve Çakır, F. B. (2016). Freeman-Sheldon syndrome associated with hemophilia-a in a newborn. Haseki Tıp Bülteni-Medical Bulletin of Haseki, 54(4), 243-245. https://dx.doi.org/10.4274/haseki.29151302-00722147-2688https://dx.doi.org/10.4274/haseki.2915https://hdl.handle.net/20.500.12511/2602WOS: 000391200000010The Freeman-Sheldon syndrome (FSS) (whistling face) is a congenital autosomal dominant disease (rarely described in its autosomal recessive form) characterized by small "whistling" mouth, a flat masklike face, joint contractures (commonly involving the fingers and hands) and underdevelopment of the nasal cartilage. Other clinical features include full forehead, deep set eyes, epicanthal folds, high palate, H-shaped cutaneous dimpling on the chin, ulnar deviation of the hands, seizures, and dislocation of the hip. A 10-day-old male newborn was admitted to our neonatal intensive care unit with jaundice and hyperthermia. He had fever of 42.5 degrees C, small whistling mouth, a flat mask-like face, joint contractures of the fingers, and ulnar deviation of the hands. The parents were consanguineous and one of the boys died when he was 1 years old due to intracranial hemorrhage. To our knowledge, there have been more than 60 cases diagnosed with FSS. This is the first reported case of Freeman-Sheldon syndrome associated with hemophilia A and the second case of FSS associated with fever without anesthesia.eninfo:eu-repo/semantics/openAccessWhistling Face SyndromeNewbornHyperthermiaHemophiliaIslık Çalan Yüz SendromuYenidoğanHipertermiHemofiliArticle54424324510.4274/haseki.2915N/AQ4