دورية أكاديمية
Freeman-Sheldon Syndrome Associated with Hemophilia-A in a Newborn
| العنوان: | Freeman-Sheldon Syndrome Associated with Hemophilia-A in a Newborn |
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| المؤلفون: | Bilge Tanyeri Bayraktar, Süleyman Bayraktar, Hüseyin Arslan, Fatma Betül Çakır |
| المصدر: | Haseki Tıp Bülteni, Vol 54, Iss 4, Pp 243-245 (2016) |
| بيانات النشر: | Galenos Yayinevi, 2016. |
| سنة النشر: | 2016 |
| المجموعة: | LCC:Medicine LCC:Medicine (General) |
| مصطلحات موضوعية: | newborn, hyperthermia, Whistling face syndrome, hemophilia, Medicine, Medicine (General), R5-920 |
| الوصف: | The 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 mask-like 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°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. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English Turkish |
| تدمد: | 1302-0072 2147-2688 |
| العلاقة: | http://www.hasekidergisi.com/article_13409/Freeman-sheldon-Syndrome-Associated-With-Hemophilia-a-In-A-NewbornTest; https://doaj.org/toc/1302-0072Test; https://doaj.org/toc/2147-2688Test |
| DOI: | 10.4274/haseki.2915 |
| الوصول الحر: | https://doaj.org/article/f59c413fc7cf447b8a12aab0ad8c9b3dTest |
| رقم الانضمام: | edsdoj.f59c413fc7cf447b8a12aab0ad8c9b3d |
| قاعدة البيانات: | Directory of Open Access Journals |
| تدمد: | 13020072 21472688 |
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| DOI: | 10.4274/haseki.2915 |