Medical Genetics in the Clinical Practice of ORL - Karger

CONTENTS
Preface
Alford, R.L.; Sutton, V.R.
Genetic Basis of Conditions Commonly Seen in
ORL Practice
Friedmann, D.R.; Lalwani, A.K.
Basic Medical Genetics for the Otolaryngologist
Alford, R.L.; Darilek, S.A.
Ordering Genetic Tests and Interpreting the
Results
Deignan, J.L.; Grody, W.W.
Referring Patients for a Medical Genetics
Consultation and Genetic Counseling
Sutton, V.R.
Towards an Etiologic Diagnosis: Assessing the
Patient with Hearing Loss
Lin, J.; Oghalai, J.S.
Nonsyndromic Hereditary Hearing Loss
Alford, R.L.
Hereditary Hearing Loss with Thyroid
Abnormalities
Choi, B.Y.; Muskett, J.; King, K.A.; Zalewski, i, CC.K
.K .K.;
Shawker, T.; Reynolds, J.C.; Butman, J.A.;
Brewer, C.C.; Stewart, A.K.; Alper, S.L.;
Griffith, A.J.
Pigmentary Anomalies and Hearing Loss
Toriello, H.V.
Usher Syndrome: Hearing Loss with Vision Loss
Friedman, T.B.; Schultz, J.M.; Ahmed, Z.M.;
Tsilou, E.T.; Brewer, C.C.
Genetic Disorders with both Hearing Loss and
Cardiovascular Abnormalities
Belmont, J.W.; Craigen, W.J.; Martinez, H.;
Jefferies, J.L.
Hearing Loss Disorders Associated with Renal
Disease
Kimberling, W.J.; Borsa, N.; Smith, R.J.
Multiple Endocrine Neoplasia: Types 1 and 2
Marsh, D.J.; Gimm, O.
Neurofibromatosis Type 2
Evans, D.G.R.; Lloyd, S.K.W.; Ramsden, R.T.
Hereditary Paragangliomas
Raygada, M.; Pasini, B.; Stratakis, C.A.
Genetic Causes of Nonsyndromic Cleft Lip with
or without Cleft Palate
Yuan, Q.; Blanton, S.H.; Hecht, J.T.
Chronic Rhinosinusitis
Wang, X.; Cutting, G.R.
Otosclerosis
Ealy, M.; Smith, R.J.H.
Genetics of Vestibulopathies
Jen, J.C.
Genetics of Otitis Media
Post, J.C.
Gene Therapy for Head and Neck Cancer
Abuzeid, W.M.; Li, D.; O’Malley Jr., B.W.
Author Index/Subject Index
Diagnosis and management of adult and pediatric genetic disorders
Medical Genetics in
the Clinical Practice of ORL
Editors
Raye L. Alford
V. Reid Sutton
Advances in Oto-Rhino-Laryngology
Editor: W. Arnold, G. Randolph
Experts in otorhinolaryngology as s we w ll as medical gene ne neti t cs have contributed
their reviews to this comprehensive
compilation. Introductory chapters de d al with basic geneetics
followed by chapters devoted
to specific disorders. The gamut of otorhinolaryngological diseases from both adult and pediatric prac-
tice is covered. Included are common disorders such as hearing losss,
cleft lip and palate, and thyroid
ca canc ncer ers as wel well
as fur furth
ther er cha chapt
ppter ers on rar rare
di diso sord rder ers su such ch as a Us Ushe her synd sy yndro
rome me, ne neur urof ofib ibro roma mato tosi sis ty type pe 2
and paraganglioma. Also, emerging fields of genetic investigation including otitis media, chronic rhinosinusitis
and gene therapy are discussed. The contributions focus on diagnosis and management, as
we well ll aas
pr prac acti tica cal is issu sues es llik
ike ho how to oord
rder er ggen
enet etic ic ttes
esti ting ng oor
re refe fer to a mmed
edic ical al ggen
enet etic icis ist or ggen
enet etic ic
counselor.
Th This is ppub
ubli lica cati tion on wwil
ill se serv rve as aan
ed educ ucat atio iona nal an and re refe fere renc nce te text xt ffor
or bbot
oth ad adul ult an and pe pedi diat atri ric ot otor orhi hinolaryngologists,
, as well as medical geneticists and genetic counselors. It will pr p ovide readers with an
understanding of the current state of genetic disorders seen in ORL practice, allow for accurate diagnosis,
and improve patient management.
Fi Fiel elds ds oof
In Inte tere rest st: Ot Otor orhi hino nola lary ryng ngol olog ogy; y; GGen
enet etic ics; s; AAud
udio iolo logy gy, Co Comm mmun unic icat atio ion Di Diso sord rder ers, HHum
uman an GGen
enet etic ics,
Pediatrics, Neonatology, Public Health
Advances in Oto-Rhino-Laryngology, Vol. 70 www.karger.com/adorl
Medical Genetics in the Clinical Practice of ORL
Ed Edit itor ors: Alf Alfor
ord, RR.
L.; Su Sutt tton on, V.R. ( (Ho Hous usto ton, TTex
ex .) )
VIII + 158 p., 11 fig., 2 in color, 20 tab., hard cover, 2011
CHF 279.– / EUR 206.50 / USD 279.00
IS ISBN BN 9978
78–33 –805 8055–96
9668 68–8 8
e-ISBN 978–3–8055–9669–5
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Vol. 70
Medical Genetics
in the Clinical Practice
of ORL
Editors
R.L. Alford
V.R. Sutton

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(14.0 . 2.11) Pr P inted n in Switzerland r ( 1. 24, 1.35,
Advances in
Oto-Rhino-Laryngology
Editor: W. Arnold, Munich; G. Randolph, Boston, Mass.
ISSN 0065–3071 / e-ISSN 1662–2847
Material for each volume in this series has been skillfully selected to document the most active areas of
otorhinolaryngology and related specialties, such as neuro-otology and oncology. The series reproduces
results from basic research and clinical studies pertaining to the pathophysiology, diagnosis,
clinical symptoms, course, prognosis and therapy of a variety of ear, nose and throat disorders. The
numerous papers correlating basic research findings and clinical applications are of immense value to
allspecialistsengagedintheongoingeffortstoimprovemanagementofthesedisorders all specialists engaged in the ongoing efforts to improve management of these disorders. Acting Actingasa as a
voice for its field, the series has also been instrumental in developing subspecialities into established
specialities.
Advances in Oto-Rhino-Laryngology
Editor: W. Arnold
Vol. 69
Active Middle Ear
Implants
Editor
K. Böheim
Advances in Oto-Rhino-Laryngology
Editor: W. Arnold
Vol. 68
Aesthetics and
Functionality in Ea
Reconstruction
Editor
R. Staudenmaier
Advances in Oto-Rhino-Laryngology
Editor: W. Arnold
Vol. 67
Cochlear Implants and
Hearing Preservation
Editors
P. Van de Heyning
A. Kleine Punte
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Vol. 69
Active Middle Ear Implants
Editor: Böheim, K. (St. Pölten)
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e IS ISBN BN 9978
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Editor: Staudenmaier, R. (Munich)
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, 1.40) Presents complete coverage from basic research to clinical studies
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