منابع مشابه
Kabuki Syndrome
Disease characteristics. Kabuki syndrome (KS) is characterized by typical facial features (elongated palpebral fissures with eversion of the lateral third of the lower eyelid; arched and broad eyebrows; short columella with depressed nasal tip; large, prominent, or cupped ears), minor skeletal anomalies, persistence of fetal fingertip pads, mild to moderate intellectual disability, and postnata...
متن کاملAudiological Manifestations in Kabuki (Niikawa-Kuroki) Syndrome
KS is a rare disorder discovered by Japanese doctors Norio Niikawa and Yoshikazu Kuroki in 1981. The syndrome received its name due to the resemblance of the characteristic facial features of patients to the make-up used in the traditional Japanese Kabuki play.1 Niikawa and Kuroki independently described the syndrome in a subset of ten Japanese children that were reported to have distinctive fa...
متن کاملUnmasking Kabuki syndrome.
The identification of de novo dominant mutations in KMT2D (MLL2) as the main cause of Kabuki syndrome (KS) has shed new light on the pathogenesis of this well-delineated condition consisting of a peculiar facial appearance, short stature, organ malformations and a varying degree of intellectual disability. Mutation screening studies have confirmed KMT2D as the major causative gene for KS and ha...
متن کاملCoarctation of the aorta in Kabuki syndrome.
The incidence of congenital heart defects in patients with Kabuki syndrome is estimated to be about 30%. To date, no specific type of heart malformation is known to be associated with the syndrome. A further 20 unselected children with Kabuki syndrome are presented. The incidence of heart abnormalities in these children is almost twice that previously reported (55%) and juxta-ductal coarctation...
متن کاملCongenital heart defects in Kabuki syndrome.
BACKGROUND Kabuki syndrome (KS) is an entity of multiple congenital malformations with mental retardation with undetermined etiology. Congenital heart defects are one of the clinical manifestations of KS with insufficient elucidations. METHODS Literature of congenital heart defects associated with KS was comprehensively retrieved, collected and reviewed. The clinical features of the congenita...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: International Journal of Human Culture Studies
سال: 2017
ISSN: 2187-1930
DOI: 10.9748/hcs.2017.221