Waardenburg Syndrome

First Edition

Alice Kahn

Details: 136 pages, Full Color, Softcover, 7" x 10"

ISBN13: 978-1-59756-021-4

© 2007 | Available


Add to Cart

  • A unique single-source of information on a little recognized and little understood syndrome
  • While written specifically for professionals in the communication sciences, the lack of a single reference resource on the topic makes this a valuable tool for general practitioners, optometrists and ophthalmologists.

This is thought to be the first book dedicated to Waardenburg Syndrome, first discovered by Dutch ophthalmologist Petrus Johannes Waardenburg in 1951. The hereditary syndrome manifests as skin discolorization, a wide bridge of the nose and, frequently, through dual pigmentation of the eyes, combined with deafness, the incidences of which led Waardenburg to his discovery.

Although the syndrome is reported to occur in about 1 per 4000 live births, the author asserts that her 20 year's experience of diagnosing and treating patients leads her to believe the incidence is indeed far higher and that diagnosis goes undetected as health care professionals are generally unaware of the signs of the syndrome.

The book intends to provide information about the syndrome, covering basic genetic concepts, and continuing with specific information about the four types of Waardenburg Syndrome as well as providing practical guidance on recognizing individuals with the syndrome, testing for hearing loss, and parent and patient counseling.

Dr. Kahn provides a comprehensive plan of action for treating patients with the syndrome, and encourages readers to understand when and how to appropriately refer patients for craniofacial team or genetic assessment. Readers will also learn how interdisciplinary craniofacial teams collaborate to solve the problems created.

Because there are several syndromes with phenotypic features similar to those of WS, these syndromes are also described and compared to Waardenburg syndrome. Resource materials are also included. Finally, several unresolved issues regarding diagnosis and treatment of WS patients are reviewed, and resources for treatment and referral of WS patients are identified.

The book is written specifically for practicing speech and language pathologists and audiologists, but, because so little information exists in a single resource, it will also be of great value to ophthalmologists, nurses, physicians, general practitioners, geneticists, psychologists, and school teachers.

  • Introduction
  • Introduction and Basic Concepts.
  • Occasional Anomalies Associated with Waardenburg Syndrome.
  • Hearing Loss and Waardenburg Syndrome.
  • Diagnosing Waardenburg Syndrome.
  • Devising Treatment Plans for Waardenburg Syndrome Patients.
  • Team Management of Waardenburg Syndrome Patients.
  • Continuing Needs and Unanswered Questions.
  • Resources for Referral and Treatment of Patients with Waardenburg Syndrome.
  • Differential Diagnosis of Pigmentation Disorders.
  • Suggestions for Counseling Families with Waardenburg Syndrome.
  • Index

Alice Kahn

Alice Kahn is an Associate Professor in the Department of Speech-language Pathology & Audiology at Miami University, Oxford, Ohio. She received her master's degree from the University of Houston in 1969, and a doctoral degree from the University of Memphis in 1984. Her current research and clinical interests include diagnosis and treatment of Waardenburg's syndrome; use of technology in clinical teaching; and patient literacy. She is the author of Craniofacial anomalies: A beginner's guide for Speech-language pathologists, from Singular-Thompson Learning (2000).

Learn More

Genetics, Embryology, and Development of Auditory and Vestibular Systems

First Edition

Sherri M. Jones, Timothy A. Jones

Details: 272 pages, Full Color, eBook

ISBN13: 978-1-59756-627-8

© 2012 | Available

Velo-Cardio-Facial Syndrome, Volume II: Treatment of Communication Disorders

First Edition

Karen J. Golding-Kushner, Robert J. Shprintzen

Details: 256 pages, B&W, Softcover + DVD, 7" x 10"

ISBN13: 978-1-59756-157-0

© 2011 | Available

Velo-Cardio-Facial Syndrome, Volume I

First Edition

Robert J. Shprintzen, Karen J. Golding-Kushner

Details: 289 pages, B&W, Softcover, 7" x 10"

ISBN13: 978-1-59756-071-9

© 2008 | Available

Medical Genetics: Its Application to Speech, Hearing, and Craniofacial Disorders

First Edition

Nathaniel H. Robin

Details: 182 pages, Full Color, eBook Only

ISBN13: 978-1-59756-258-4

© 2008 | Available

Educating Children with Velo-Cardio-Facial Syndrome, 22q11.2 Deletion Syndrome, and DiGeorge Syndrome

Third Edition

Donna Cutler-Landsman

Details: 387 pages, B&W, Softcover, 7" x 10"

ISBN13: 978-1-63550-167-4

© 2020 | Available