Freeman-Sheldon syndrome associated with hemophilia-a in a newborn

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dc.authorid0000-0001-9474-7372
dc.contributor.authorTanyeri Bayraktar, Bilge
dc.contributor.authorBayraktar, Süleyman
dc.contributor.authorArslan, Hüseyin
dc.contributor.authorÇakır, Fatma Betül
dc.date.accessioned10.07.201910:49:13
dc.date.accessioned2019-07-10T19:56:10Z
dc.date.available10.07.201910:49:13
dc.date.available2019-07-10T19:56:10Z
dc.date.issued2016
dc.departmentİstanbul Medipol Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Çocuk Sağlığı ve Hastalıkları Ana Bilim Dalı
dc.descriptionWOS: 000391200000010
dc.description.abstractThe 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.
dc.identifier.citationTanyeri 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.2915
dc.identifier.doi10.4274/haseki.2915
dc.identifier.endpage245
dc.identifier.issn1302-0072
dc.identifier.issn2147-2688
dc.identifier.issue4
dc.identifier.scopusqualityQ4
dc.identifier.startpage243
dc.identifier.urihttps://dx.doi.org/10.4274/haseki.2915
dc.identifier.urihttps://hdl.handle.net/20.500.12511/2602
dc.identifier.volume54
dc.identifier.wosqualityN/A
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.language.isoen
dc.publisherGalenos Yayıncılık
dc.relation.ispartofHaseki Tıp Bülteni-Medical Bulletin of Hasekien_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectWhistling Face Syndrome
dc.subjectNewborn
dc.subjectHyperthermia
dc.subjectHemophilia
dc.subjectIslık Çalan Yüz Sendromu
dc.subjectYenidoğan
dc.subjectHipertermi
dc.subjectHemofili
dc.titleFreeman-Sheldon syndrome associated with hemophilia-a in a newborn
dc.title.alternativeBir yenidoğanda Freeman-Sheldon sendromunun hemofili A ile birlikteliği
dc.typeArticle

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