Waardenburg Syndrome

ISBN-13: 9781597560214 / Angielski / Miękka / 2006 / 136 str.

Alice Kahn; Kathleen Hutchinson; Laura J. Kelly

Opis

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