Kabuki Syndrome: Case Study Report
نویسندگان
چکیده
منابع مشابه
Latex allergy in a patient with Kabuki syndrome. Case report.
BACKGROUND AND OBJECTIVES The knowledge of anesthesiologists of specific aspects of patients with rare syndromes is a growing need since those patients are increasingly taken to the operating room. The objective of this report was to describe a case of latex allergy in a patient with Kabuki Syndrome, whose aspects have not been completely explained, alerting anesthesiologists for the possibilit...
متن کاملKabuki 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 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 کاملKabuki syndrome: a case report and summary of previous oral findings
A case of Kabuki syndrome in a ten-year old male is presented with a review of published literature. This rare autosomal dominant condition presents with a number of characteristic dermatoglyphic abnormalities and facial features and other associated developmental anomalies and oral findings. The presence of hypodontia and other dental morphological abnormalities, such as root and crown anomali...
متن کاملPersistent Hyperinsulinism in Kabuki Syndrome 2: Case Report and Literature Review
Kabuki syndrome is a clinically and genetically heterogeneous congenital malformation syndrome with protean clinical manifestations. This reflects the important epigenetic role in embryonic development of the two genes currently known to be associated with Kabuki syndrome i.e., KMT2D and KDM6A, which are responsible for Kabuki syndrome 1 and Kabuki syndrome 2, respectively. Hypoglycemia is thou...
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ژورنال
عنوان ژورنال: Journal of Dentistry, Oral Disorders & Therapy
سال: 2017
ISSN: 2372-0972
DOI: 10.15226/jdodt.2017.00179