Kabuki syndrome

08/01/2015 - "A newborn Japanese girl with Kabuki syndrome had neonatal persistent hyperinsulinemic hypoglycemia, which seemed to be a rare complication of Kabuki syndrome. "
08/01/2015 - "Neonatal case of novel KMT2D mutation in Kabuki syndrome with severe hypoglycemia."
02/01/2014 - "Hypoglycemia in Kabuki syndrome."
08/01/2015 - "Hypoglycemia should be considered when Kabuki syndrome patients have convulsion or other non-specific symptoms. "
02/01/2001 - "The diagnosis of Kabuki syndrome should be considered in patients with hypoglycemia or premature thelarche when associated with developmental delay and a peculiar facies."

08/01/2003 - "In this study, we analyzed seizure characteristics and clinical outcomes in nine patients with Kabuki make-up syndrome. "
11/01/2010 - "Seizures and EEG pattern in Kabuki syndrome."
06/01/2005 - "A 6 year-old Chinese boy with Kabuki syndrome presented with hypoglycemic seizure. "
08/01/2015 - "Hypoglycemia should be considered when Kabuki syndrome patients have convulsion or other non-specific symptoms. "
08/01/2003 - "Favorable seizure outcome in Kabuki make-up syndrome associated with epilepsy."

12/01/1994 - "Although susceptibility to infections in Kabuki make-up syndrome (KMS) has frequently been reported, there have been few immunological studies. "
09/01/2015 - "Kabuki or Niikawa-Kuroki syndrome (KS) is a rare disorder with multiple malformations and recurrent infections, especially otitis media. "
09/15/2003 - "Kabuki syndrome is a multiple congenital anomaly/mental retardation syndrome which often involves recurrent infections. "
02/01/2001 - "The Niikawa-Kuroki (Kabuki make-up) syndrome is a recognizable pattern of malformation consisting of mental retardation, dysmorphic cranio-facial features, bone and joint anomalies, postnatal growth deficiency and susceptibility to infections. "
09/01/2005 - "Fifteen patients (29.4%) had DI from non-tumor causes, which include idiopathic in 2 patients (13.5%), terminal events in 4 patients (26.8%), central nervous system (CNS) infection in 5 patients (33.3%), CNS anomalies in 2 patients (13.5%), Kabuki syndrome in 1 patient (6.6%), head injury in 1 patient (6.6%). "

09/01/2015 - "This study aimed to investigate the genetic defects in Kabuki syndrome and determine if immune status is related to recurrent otitis media. "
09/01/2015 - "Kabuki or Niikawa-Kuroki syndrome (KS) is a rare disorder with multiple malformations and recurrent infections, especially otitis media. "
05/01/2006 - "Hearing loss, mainly due to recurrent otitis media, has been reported in approximately 40% of individuals with Niikawa-Kuroki (Kabuki) syndrome (NKS). "

09/01/2015 - "Kabuki syndrome (KS) is a rare syndrome characterized by multiple congenital anomalies and mental retardation. "
08/01/2015 - "Kabuki make-up syndrome (KMS) is a multiple malformation/intellectual disability syndrome that was first described in Japan but is now reported in many other ethnic groups. "
07/01/2015 - "Kabuki syndrome is a multiple congenital malformation syndrome, with characteristic facial features, mental retardation, and skeletal and congenital heart anomalies. "
01/01/2015 - "Kabuki syndrome is a rare disorder characterized by the association of mental retardation and postnatal growth deficiency with distinctive facial appearance, skeletal anomalies, cardiac and renal malformation. "
11/01/2014 - "Kabuki syndrome (KS) is a multiple congenital anomaly/mental retardation syndrome with characteristic facial features. "