Person:
BAYRAKTAR, BILGE

Profile Picture
Status
Kurumdan Ayrılmıştır
Organizational Units
OrgUnit Logo
Organizational Unit
Job Title
First Name
BILGE
Last Name
BAYRAKTAR
Name
Email Address
Birth Date

Filters

20161
Reset filters

Settings

Author: BAYRAKTAR, Bilge × Author: ARSLAN, HÜSEYİN ×

Search Results

Now showing 1 - 1 of 1
  • No Thumbnail Available
    PublicationMetadata only
    Freeman-Sheldon Syndrome Associated with Hemophilia-A in a Newborn
    (2016-12-01T00:00:00Z) BAYRAKTAR, Bilge; Bayraktar, Suleyman; ARSLAN, HÜSEYİN; ÇAKIR, FATMA BETÜL; BAYRAKTAR, BILGE; ÇAKIR, FATMA BETÜL
    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 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.