Hyperinsulinism of Kabuki Syndrome: Clinical Characteristics and Treatments
نویسندگان
چکیده
منابع مشابه
Kabuki syndrome: clinical and molecular characteristics
Kabuki syndrome (KS) is a rare syndrome characterized by multiple congenital anomalies and mental retardation. Other characteristics include a peculiar facial gestalt, short stature, skeletal and visceral abnormalities, cardiac anomalies, and immunological defects. Whole exome sequencing has uncovered the genetic basis of KS. Prior to 2013, there was no molecular genetic information about KS in...
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...
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 کاملHyperinsulinism Hyperammonemia Syndrome, a Rare Clinical Constellation
We present the unique case of adult hyperinsulinism hyperammonemia syndrome (HI/HA). This condition is rarely seen in children and even more infrequently in adults. A 27-year-old female with HI/HA, generalized tonic-clonic seizures, staring spells, and gastroesophageal reflux disease presented with diffuse abdominal pain, hypoglycemia, confusion, and sweating. She reported a history of signific...
متن کاملClinical Heterogeneity of Kabuki Syndrome: Study of Moroccan Patients
Kabuki syndrome (KS, Niikawa-Kuroki syndrome, MIM:147920) is a rare multiple congenital anomaly/mental retardation syndrome described simultaneously by Niikawa et al, 1988 and Kuroki et al, 1981. The estimated frequency of this syndrome is about 1/32 000 in Japan. KS is characterized by postnatal growth retardation, distinctive facial features, dermatoglyphic anomalies, skeletal dysplasia, and ...
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: Journal of Pediatric Nursing
سال: 2020
ISSN: 0882-5963
DOI: 10.1016/j.pedn.2020.02.014