Los miembros del Grupo de Consejos Profesionales tienen experiencias profesionales con el síndrome Kabuki. El propósito de este grupo es facilitar el entrelazamiento entre ambos profesionales, medico y educacional, que tienen interés en KS. Esperamos que con el tiempo el grupo crezca para incluir profesionales de todos los campos, tales como pediatras, dentistas, maestros, terapistas ocupacionales, investigadores de genética, etc. Este grupo debe probar ser un recurso de valor para él numero creciente de profesionales que se encuentran con KS por primera vez. Si usted desea ser añadido a la lista de contacto en esta página, por favor envíe un correo electrónico a Margot Schmiedge.

Nota: Los miembros del Grupo de Consejos profesionales son voluntarios y personas muy ocupadas. Ellos no darán consejos médicos por correo electrónico. Si busca consejos médicos, usted debe ir al medico familiar, pediatra o profesional medico apropiado. Entonces si es necesario, esa persona se puede comunicar con uno de los miembros de este grupo. Si está buscando información sobre KS, vea la página de Datos sobre Kabuki. Si tiene más preguntas sobre KS o KSN, vea la Información de Contacto.

 

Grupo de Consejos Profesionales

CANADA

Dr. Howard Cross Pediatric Dentist Children's Hospital 685 William Ave. Winnipeg, Manitoba R3E 0Z2 CANADA	Ph: Fax: Email:	204-787-2516 204-787-4354 hcross@cc.umanitoba.ca
Dr. Howard Cross, a pediatric dentist, is Director of the Children's Hospital Dental Division and the Manitoba Cleft Program. He has co-authored the 1999 article, "Kabuki Syndrome: description of dental findings in 8 patients" in Clinical Genetics 56(2) pp. 154-7.

 

USA

Leah Weyerts Burke, MD Clinical Director Vermont Regional Genetics Center 1 Mill Street, Box B-10 Burlington, Vermont 05401 USA	Ph: Email:	802-658-4310 Leah.Burke@vtmednet.org
Dr. Burke reported 8 cases of Kabuki syndrome in 1995 in the following article: "Kabuki Syndrome: Underdiagnosed Recognizeable Pattern in Cleft Palate Patients." Leah W. Burke, M.D. and Marilyn C. Jones, M.D. Cleft Palate-Craniofacial Journal, January 1995, Vol. 32 No.1, Pp. 77-84. Since that time she has diagnosed 3 more cases of Kabuki syndrome. Dr. Burke is a clinical geneticist and dysmorphologist boarded in Medical Genetics and Pediatrics. She is also involved in the teaching of medical students, nurses, residents and other health care workers.

 

Mark C. Hannibal, M.D., Ph.D., FACMG, FAAP Assistant Professor Division of Genetics and Developmental Medicine Department of Pediatrics University of Washington School of Medicine Box 359300, Mailstop M2-9 Medical Genetics Children's Hospital and Regional Medical Center 4800 Sand Point Way NE Seattle, WA 98105-0371 USA	Ph: Fax: Email:	206-987-2056 206-987-2495 mhanni@u.washington.edu
Dr. Mark C. Hannibal is a clinical geneticist and immunologist who has a research interest in Kabuki syndrome. Along with Dr. Hiroshi Kawame, Dr. Bonnie Pagon and Dr. Louanne Hudgins, he published a case series of Kabuki syndrome patients in the Journal of Pediatrics. He now follows many patients from Washington state, Idaho and Alaska.

 

Dr. Louanne Hudgins, MD Associate Professor of Pediatrics Division of Medical Genetics Director, Perinatal Genetics Stanford University Stanford, CA 94305 USA	Ph: Email:	650-723-6858 lhudgins@stanford.edu
Louanne Hudgins, MD, is a clinical geneticist and pediatrician. She has been practicing clinical genetics (and seeing patients with Kabuki syndrome) for 11 years, initially at the University of Arizona-Phoenix, then at the University of Washington and through the State of Alaska Genetics Program, and for the past year at Stanford University. Along with Hiroshi Kawame, Mark Hannibal, and Bonnie Pagon, she co-authored an article on Kabuki syndrome based on their experience with 18 patients from Washington, Alaska and Arizona (Journal of Pediatrics, Volume 134, Pages 480-485, 1999). She is particularly interested in the patterns of developmental disabilities seen in Kabuki syndrome and hopes to initiate a study in this area within the near future.

 

Jeff Milunsky, M.D., F.A.C.M.G. Associate Professor of Pediatrics, Genetics and Genomics Center for Human Genetics Boston University School of Medicine 700 Albany Street, Suite W408 Boston, MA 02118 USA	Ph: Fax: Email:	617-638-7083 617-638-7092 jmilunsk@bu.edu
Jeff Milunsky, M.D. is a Clinical and Molecular Geneticist as well as a Pediatrician. He has been practicing clinical genetics for 8 years at Boston University School of Medicine and has been the Director of Clinical Genetics for 6 years. He is also the Associate Director of Molecular Genetics and co-supervises a large clinical molecular diagnostic laboratory. He has a special interest in congenital deafness and the etiology of mental retardation. He has directed “a Deafness Clinic Without Walls” for 7 years. Within that clinic, he has diagnosed 3 patients with Kabuki syndrome. He described one of the first Haitian patients with Kabuki syndrome (Am J Med Genet 100:172-174, 2001). Using the latest molecular cytogenetic technology, he has embarked on a study to identify what genes are involved in causing Kabuki syndrome.

 

Jeffrey Ming, MD, PhD Lindsey Campbell, MS, Certified Genetic Counselor Clinical Genetics Center The Children's Hospital of Philadelphia 34th Street and Civic Center Boulevard Philadelphia, PA 19104 USA	Ph: Fax: Email (Jeffrey): Email (Lindsey):	215-590-2920 215-590-3298 ming@email.chop.edu campbelll@email.chop.edu
Dr. Ming and Lindsey Campbell are in the Division of Human Genetics at The Children's Hospital of Philadelphia and the University of Pennsylvania School of Medicine. They and their colleagues have seen approximately 30 children with Kabuki syndrome. They are very interested in understanding what genes are involved in causing Kabuki syndrome.

 

Roberta A. Pagon, MD Professor of Pediatrics University of Washington School of Medicine Division of Medical Genetics CH-25 Children's Hospital and Regional Medical Center 4800 Sand Point Way NE PO Box 5371 Seattle, WA 98105-0371 USA	Ph: Fax: Email:	206-526-2056 206-517-2495 bpagon@u.washington.edu
Dr. Pagon, Dr. Mark Hannibal and colleagues have published their newest article in the Journal of Pediatrics, featuring their findings with 18 individuals with Kabuki. They continue to be interested studying patients with Kabuki based on these retrospective findings.

 

Carmella Stadter, M.S. Certified Genetic Counselor University of Maryland School of Medicine Department of Pediatrics, Division of Human Genetics 22 South Greene Street, Room N6E10 Baltimore, MD 21201 USA	Ph: Fax: Email:	410-328-3335 410-328-3379 CStadter@som.umaryland.edu
Carmella is a certified genetic counselor with nearly 8 years experience in pediatric genetic counseling and works closely with Dr. Wulfsberg at the University of Maryland School of Medicine.

 

Dr. Helga Toriello, Ph.D., FACMG Medical Geneticist Spectrum Health Grand Rapids, MI 49503 USA	Ph: Fax: Email:	616-391-2700 616-391-3114 helga.toriello@spectrum-health.org
Dr. Toriello is a medical geneticist with Spectrum Health (which is the result of a merger between Butterworth and Blodgett Hospitals). She primarily functions as a dysmorphologist in the genetics clinic, and has made an effort to familiarize herself with Kabuki and several other "new" syndromes. Dr. Toriello has seen several children she feels confident have Kabuki syndrome, including some diagnosed in the newborn period. She is interested in some of the more subtle manifestations of Kabuki syndrome, which could prove to be helpful diagnostic clues.

 

Gina Rocha Worley, M.S., CCC/SLP Children's Medical Center of Dallas 1935 Motor Street, Dallas, Texas 75235 USA	Ph: Fax:	214-456-6177 214-456-6086
See Dr. Biavati (above)

 

Eric A. Wulfsberg, M.D. Director, Clinical Genetics/Dysmorphology University of Maryland Medical Center Department of Pediatrics, Division of Human Genetics 22 South Greene Street, Room N6E10 Baltimore, MD 21201 USA	Ph: Fax: Email:	410-328-3335 410-328-3379 EWulfsberg@som.umaryland.edu
Dr. Wulfsberg is currently a pediatric clinical geneticist at the University of Maryland School of Medicine and has an interest in speech and language in individuals with the Kabuki syndrome as well as general developmental outcome. Dr. Wulfsberg has been interested in the Kabuki syndrome since the early 1990s when he saw his first patient with that disorder and has presented several abstracts at scientific meetings on the disorder.

 

SOUTH AMERICA

Antonia Paula Marques-de-Faria, MD, PhD Departamento de Genética Médica - FCM - UNICAMP Cx. Postal:6111 CEP:13084-971 Campinas, SP BRAZIL	Ph: Fax: Email:	55-19-37888901 55-19-37888909 apmdefaria@uol.com.br or apmdefaria@unicamp.br
Dr. Marques-de-Faria is a physician and a clinical geneticist. She works as a doctor and teacher at the Department of Medical Genetics, which she currently chairs, in the State University of Campinas (UNICAMP), São Paulo, Brazil. Her main fields of interest are the genetic etiologies of mental deficiency and correlate conditions, clinical dysmorphology and genetic counseling. Dr. Marques-de-Faria first encountered Kabuki syndrome in the early 90s, diagnosing several patients, and has been studying the syndrome ever since. Today, she is particularly interested in KS because of the research of graduate student, Dr Gisele Santos de Oliveira (also a member of this advisory group), whom she advises. Concerning the patients they are studying, they presented "Clinical features of Kabuki syndrome in ten Brazilian children" (American Journal of Humam Genetics 63(Supp): A112, 1998), at the last meeting of the American Society of Human Genetics (ASHG), in Denver, CO, USA.

 

UNITED KINGDOM

EUROPE

Jaap Schrander, MD, PhD Department of Pediatrics Academic hospital Maastricht PO Box 5800 6202 AZ Maastricht THE NETHERLANDS	Ph: Fax: Email:	+31-43-3877248 +31-43-3875246 jjp.schrander@kg.unimaas.nl
Jaap Schrander is the paediatrician involved with the Dutch Kabuki Network. He follows a number of children with Kabuki syndrome. Preventive management in this, and the many other genetic syndromes, is his main interest. He is involved in a number of publications (Eur J Pediatr 1994;153:438-445; Am J Med Genet 2003, in press).

 

Dr. Angelo Selicorni Clinica Pediatrica De Marchi via Commenda 9 20122 Milan ITALY	Ph: Fax: Email(home): Email(work):	2-57992457 or 2-55012744 2-55012744 angsel@tin.it assi@cubalibre.it Please send emails to both addresses
Dr. Selicorni is a pediatrician and medical geneticist working in a pediatric department. He is involved in the diagnosis and in the medical follow-up of patients with possible genetic syndromes. Dr. Selicorni has been involved with Kabuki Syndrome since 1990 and is one of the co-authors of one of the first European articles on the syndrome in Clinical Dysmorphology, author Philip N.,et al. He is following about 15 patients with Kabuki syndrome in Italy and is presently working on a report of these cases for a genetic journal.

 

MIDDLE EAST

JAPAN

Dr. Yoshikazu Kuroki Medical Director Kanagawa Children's Medical Centre 2-138-4 Mutsukawa, Minami-ku Yokohama 232-8555 JAPAN	Email:	ykuroki@ma3.justnet.ne.jp
Dr. Kuroki is a clinical geneticist, dysmorphologist and pediatrician. He is a medical director of Kanaawa Children's Medical Centere and director of Medical Genetics Division. He described the first KMS cases in the Journal of Pediatrics in 1981. Since then he has diagnosed and clinically followed more than 20 children with Kabuki. In 1993 he gave a review article, "Clinical delineation and new aspects of Kabuki make-up (Niikawa-Kuroki) syndrome" (New trends in pediatric neurology, Feferman N, Chamoles NA (eds); Elsevier Science). He feels that the success of the network will contribute much to the basic knowledge of Kabuki and the improvement of quality of life of persons with Kabuki.

 

AUSTRALIA

Dr. Julie McGaughran Medical Director Queensland Clinical Genetics Service Royal Children's Hospital and Health District Herston Road Herston Brisbane 4029 Queensland AUSTRALIA	Ph: Fax: Email:	+ 617-3636-1686 +617-3636-1987 Julie_McGaughran@health.qld.gov.au
Julie McGaughran has seen over 20 patients with Kabuki and has published several papers.

 

© 1998 - 2008 Kabuki Syndrome Network. Last updated 08 July 2007.