KSN FILES

Following are a collection of articles accumulated from various sources. Many have been published in the Kabuki Journal. For information on how to receive KSN's newsletter go to: Journal

• Anesthetic Management (pdf file)
  Authors: A.I. Casado, J. Ruiz, J. Oro, C. Martínez, I. Fernández, P. Oliva
  

• Anesthesia and Analgesia (Adapted)
  Authors: Merlin G. Butler MD, PhD, FACMG, Blaine G. Hayes BS, Melanie M. Hathaway BA, BS, Michael L. Begleiter MS, CGC
  

• The Human Genome Project (pdf file)
  Author: Jeffrey Ming, M.D., Ph.D.
  

• Unmasking Kabuki Syndrome (pdf file)
  Author: Jeff Milunsky, M.D.,F.A.C.M.G., and XL Huang
  Summary of Dr. Milunsky's Findings
  Author: Margot Schmiedge
  See Update Oct 2005

• History on the "Make-up" in Kabuki
  Author: Margot Schmiedge
  

• Kabuki Syndrome - General Information
  Author: Margot Schmiedge
  

• A Word About...Those Beautiful Eyes
  Author: Margot Schmiedge
  

• Kabuki Syndrome - The Visual Issues
  Author: Dr. Robert Lederman MCOptom
  

• Important Dental and Orthodontic Issues for Children with Kabuki Syndrome (pdf file)
  Author: Bryan J. Williams DDS, MSD, MEdPediatric Dentistry and Orthodontics
  

• Kabuki Syndrome and Cleft Palate (pdf file)
  Author: Takuya Iida, MD, Susam Park, MD, Eri Iida, MD
  

• Dermatoglyphics and Kabuki Syndrome (pdf file)
  Author: Albert E. Chudley, M.D., FRCPC, FCCMG
  

• Inner Ear Abnormalities
  Author: Margot Schmiedge
  

• Audiological and Vestibular Findings in Kabuki Syndrome (pdf file)
  Authors: S. Barozzi, F. Di Berardino & A. Selicorni
  

• Cardiac Anomalies
  Author: Margot Schmiedge
  

• Hypoglycemia - How it Relates to Kabuki Syndrome (pdf file)
  Author: Dr. Mark Hannibal, M.D., Ph.D., FACMG, FAAP
  

• Immune and Autoimmune Issues in Kabuki Syndrome (pdf file)
  Author: Jeffrey E. Ming, MD, PhD
  

• Blood Disorders - Hemolytic Anemia, ITP and Evans Syndrome
  Author: Margot Schmiedge
  

• Further Delineation of Kabuki Syndrome in 48 Well-Defined New Individuals (pdf file)
  Authors: Linlea Armstrong,Azza Abd El Moneim,Kirk Aleck,David J. Aughton,Clarisse Baumann,Stephen R. Braddock,Gabriele Gillessen-Kaesbach,John M. Graham Jr,Theresa A. Grebe,Karen W. Gripp,Bryan D. Hall,Raoul Hennekam,Alasdair Hunter,Kim Keppler-Noreuil,Didier Lacombe,Angela E. Lin,Jeffrey E. Ming,Nancy Mizue Kokitsu-Nakata,Sarah M. Nikkel,Nicole Philip,Annick Raas-Rothschild,Annemarie Sommer,Alain Verloes,Claudia Walter,Dagmar Wieczorek,Marc S. Williams,Elaine Zackai,and Judith E. Allanson1
  

• Some Physical Therapy Perspectives on 'Low Tone' and Kabuki Syndrome (pdf file)
  Author: Jean Wilson, Pediatric Physical Therapist
  

• Speech Characteristics in the Kabuki Syndrome (pdf file)
  Authors: Sheila Upton,Carmella S. Stadter,Pat Landis,and Eric A. Wulfsberg
  

• The CAPD Model and Kabuki Syndrome (pdf file)
  Authors: Theresa M. Cinotti, MA, CCC-SLP and Kim L. Tillery, PhD, CCC-A
  

• Variable Expressivity in a Family with Kabuki Make-up (Niikawa-Kuroki) Syndrome (pdf file)
  Author: Jia-Woei Hou, MD, PhD
  

• Kabuki and Autistic-type Behaviors
  Authors: Margot Schmiedge and Jen Morton
  

• Understanding Behaviors (pdf file)
  Author: Margot Schmiedge
  

• Feeding
  Author: Margot Schmiedge
  

• Hips
  Author: Margot Schmiedge
  

• Growth
  Author: Margot Schmiedge
  

• An Appropriate Education
  Author: Janet McIntosh
  

• Daniel - A Mother's Thoughts
  Author: Susan Buys
  

• Living With Kabuki Syndrome
  Author: LeAnn Taylor
  

• Kabuki Syndrome: A Challenge for the Primary Care Provider (pdf file)
  Author: Bonnie Crane, RN, MSN
  "This is a case study of a pediatric patient with a genetic disorder called Kabuki syndrome. The patient’s medical history and pathophysiology are examined. In addition, a discussion of current advanced medical research and treatment in the area of genetics relating to Kabuki syndrome is explored. Ethical, social issues and disease prevention are included along with the financial impact this disorder can have on the family unit as a whole. Finally, the theoretical framework created by Merle Mishel with her Uncertainty in Illness Theory is utilized to help expand on the role of the advance practice nurse (APN) as a primary care provider who is treating a patient with Kabuki Syndrome."
  Kabuki Syndrome: A Challenge for the Primary Care Provider (Power Point Presentation)
  Author: Bonnie Crane, RN, MSN
  
  KSN Home Page || Facts about Kabuki || Reference || Membership|| Directory || Survey
  Discussion Group Related Links || Professional Advisory Group || Bulletin Board || About KSN
  © 1998 - 2008 Kabuki Syndrome Network. Last updated 02 Sep 2009.