Freeman-Sheldon Syndrome Associated with Hemophilia-A in a Newborn
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...
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Galenos Yayinevi
2016-12-01
|
| Series: | Haseki Tıp Bülteni |
| Subjects: | |
| Online Access: | http://www.hasekidergisi.com/article_13409/Freeman-sheldon-Syndrome-Associated-With-Hemophilia-a-In-A-Newborn |
| _version_ | 1797923576791171072 |
|---|---|
| author | Bilge Tanyeri Bayraktar Süleyman Bayraktar Hüseyin Arslan Fatma Betül Çakır |
| author_facet | Bilge Tanyeri Bayraktar Süleyman Bayraktar Hüseyin Arslan Fatma Betül Çakır |
| author_sort | Bilge Tanyeri Bayraktar |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-10T14:48:33Z |
| format | Article |
| id | doaj.art-f59c413fc7cf447b8a12aab0ad8c9b3d |
| institution | Directory Open Access Journal |
| issn | 1302-0072 2147-2688 |
| language | English |
| last_indexed | 2024-04-10T14:48:33Z |
| publishDate | 2016-12-01 |
| publisher | Galenos Yayinevi |
| record_format | Article |
| series | Haseki Tıp Bülteni |
| spelling | doaj.art-f59c413fc7cf447b8a12aab0ad8c9b3d2023-02-15T16:07:42ZengGalenos YayineviHaseki Tıp Bülteni1302-00722147-26882016-12-0154424324510.4274/haseki.2915Freeman-Sheldon Syndrome Associated with Hemophilia-A in a NewbornBilge Tanyeri Bayraktar0Süleyman Bayraktar1Hüseyin Arslan2Fatma Betül Çakır3Bezmialem Foundation University Faculty of Medicine, Department of Neonatology, İstanbul, TurkeyHaseki Training and Research Hospital, Clinic of Pediatrics, İstanbul, TurkeyMedipol University Faculty of Medicine, Department of Pediatrics, İstanbul, TurkeyBezmialem Vakif University Faculty of Medicine, Department of Pediatric Hematology and Oncology, İstanbul, TurkeyThe 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.http://www.hasekidergisi.com/article_13409/Freeman-sheldon-Syndrome-Associated-With-Hemophilia-a-In-A-NewbornnewbornhyperthermiaWhistling face syndromehemophilia |
| spellingShingle | Bilge Tanyeri Bayraktar Süleyman Bayraktar Hüseyin Arslan Fatma Betül Çakır Freeman-Sheldon Syndrome Associated with Hemophilia-A in a Newborn Haseki Tıp Bülteni newborn hyperthermia Whistling face syndrome hemophilia |
| title | Freeman-Sheldon Syndrome Associated with Hemophilia-A in a Newborn |
| title_full | Freeman-Sheldon Syndrome Associated with Hemophilia-A in a Newborn |
| title_fullStr | Freeman-Sheldon Syndrome Associated with Hemophilia-A in a Newborn |
| title_full_unstemmed | Freeman-Sheldon Syndrome Associated with Hemophilia-A in a Newborn |
| title_short | Freeman-Sheldon Syndrome Associated with Hemophilia-A in a Newborn |
| title_sort | freeman sheldon syndrome associated with hemophilia a in a newborn |
| topic | newborn hyperthermia Whistling face syndrome hemophilia |
| url | http://www.hasekidergisi.com/article_13409/Freeman-sheldon-Syndrome-Associated-With-Hemophilia-a-In-A-Newborn |
| work_keys_str_mv | AT bilgetanyeribayraktar freemansheldonsyndromeassociatedwithhemophiliaainanewborn AT suleymanbayraktar freemansheldonsyndromeassociatedwithhemophiliaainanewborn AT huseyinarslan freemansheldonsyndromeassociatedwithhemophiliaainanewborn AT fatmabetulcakır freemansheldonsyndromeassociatedwithhemophiliaainanewborn |