Book Description
This is thought to be the first book dedicated to Waardenburg Syndrome,first discovered by Dutch Ophthalmologist Petrus Johannes Waardenburg in1951. The hereditary syndrome manifests as skin discolorization, a widebridge of the nose and, frequently, through dual pigmentation of the eyes, combined with deafness, the incidences of which led Waardenburg to hisdiscovery. Although the syndrome is reported to occur in about 1 per 4000live births, the author asserts that her 20 year's experience ofdiagnosing and treating patients leads her to believe the incidence isindeed far higher and that diagnosis goes undetected as health careprofessionals are generally unaware of the signs of the syndrome. The book intends to provide information about the syndrome, covering basic geneticconcepts, and continuing with specific information about the four types of Waardenburg Syndrome as well as providing practical guidance onrecognizing individuals with the syndrome, testing for hearing loss, andparent and patient counseling. Dr. Kahn provides a comprehensive plan ofaction for treating patients with the syndrome, and encourages readers tounderstand when and how to appropriately refer patients for craniofacialteam or genetic assessment. Readers will also learn how interdisciplinarycraniofacial teams collaborate to solve the problems created. Becausethere are several syndromes with phenotypic features similar to those ofWS, these syndromes are also described and compared to Waardenburgsyndrome. Resource materials are also included. Finally, severalunresolved issues regarding diagnosis and treatment of WS patients arereviewed, and resources for treatment and referral of WS patients areidentified. The book is written specifically for practicing speech andlanguage pathologists and audiologists, but, because so little information exists in a single resource, it will also be of great value toophthalmologists, nurses, physicians ... Read more

Book Description
This book has been created for patients who have decided to make education and research an integral part of the treatment process. Although it also gives information useful to doctors, caregivers and other health professionals, it tells patients where and how to look for information covering virtually all topics related to waardenburg syndrome (also Klein-Waardenberg syndrome), from the essentials to the most advanced areas of research. The title of this book includes the word official. This reflects the fact that the sourcebook draws from public, academic, government, and peer-reviewed research. Selected readings from various agencies are reproduced to give you some of the latest official information available to date on waardenburg syndrome. Given patients' increasing sophistication in using the Internet, abundant references to reliable Internet-based resources are provided throughout this sourcebook. Where possible, guidance is provided on how to obtain free-of-charge, primary research results as well as more detailed information via the Internet. E-book and electronic versions of this sourcebook are fully interactive with each of the Internet sites mentioned (clicking on a hyperlink automatically opens your browser to the site indicated). Hard-copy users of this sourcebook can type cited Web addresses directly into their browsers to obtain access to the corresponding sites. In addition to extensive references accessible via the Internet, chapters include glossaries of technical or uncommon terms. ... Read more

Product Description
In March 2001, the National Institutes of Health issued the following warning: "The number of Web sites offering health-related resources grows every day. Many sites provide valuable information, while others may have information that is unreliable or misleading." Furthermore, because of the rapid increase in Internet-based information, many hours can be wasted searching, selecting, and printing. Since only the smallest fraction of information dealing with Waardenburg syndrome is indexed in search engines, such as www.google.com or others, a non-systematic approach to Internet research can be not only time consuming, but also incomplete. This book was created for medical professionals, students, and members of the general public who want to conduct medical research using the most advanced tools available and spending the least amount of time doing so. ... Read more

Book Description

Information on many genetic disorders, and the frequent new findings on them, has been extremely difficult to come byuntil now. The Gale Encyclopedia of Genetic Disorders addresses the need for current, hard-to-find facts on emerging discoveries. The two-volume Encyclopedia, presented in a single alphabetical sequence, provides clear, complete information on genetic disorders, including conditions, tests, procedures, treatments and therapies, in articles that are both comprehensive and easy to understand, in language accessible to laypersons. The articles are arranged in a standardized format for quick comparison and ease of use, while non-disorder topics are covered in detail with extended entries. Students will want to consult the Gale Encyclopedia of Genetic Disorders for useful information on a range of well known disorders, including Down Syndrome, Trisomy, Hemophilia and Tourette Syndrome, and rarely seen diseases such as Meckel Syndrome, Neuraminidase Deficiency and Phenylketonuria.