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Title Craniosynostoses : molecular genetics, principles of diagnosis and treatment / Volume Editors, Maximilian Muenke, Bethesda, Md, Wolfram Kress, Würzburg, Hartmut Collmann, Würzburg, Benjamin Solomon, Bethesda, Md
Published Basel : Karger, 2011


Description 1 online resource
Series Monographs in human genetics, 0077-0876 ; vol. 19
Monographs in human genetics ; v. 19. 0077-0876
Contents Craniosynostosis : a historical overview / Solomon, B.D. (Bethesda, Md.); Collmann, H.; Kress, W. (Würzburg); Muenke, M. (Bethesda, Md.) -- Discovery of MSX2 mutation in craniosynostosis : a retrospective view / Müller, U. (Giessen) -- Regulation of calvarial bone growth by molecules involved in the craniosynostoses / Benson, M.D.; Opperman, L.A. (Dallas Tex.) -- Signal transduction pathways and their impairment in syndromic craniosynostosis / Connerney, J.J. (Boston, Mass.); Spicer, D.B. (Scarborough, Me.) -- The molecular bases for FGF receptor activation in craniosynostosis and dwarfism syndromes / Beenken, A.; Mohammadi, M. (New York, N.Y.) -- Recurrent germline mutations in the FGFR2/3 genes, high mutation frequency, paternal skewing and age-dependence / Arnheim, N.; Calabrese, P. (Los Angeles, Calif.) -- Apert, Crouzon, and Pfeiffer syndromes / Cohen Jr., M.M. (Halifax, N.S.) -- Muenke syndrome / Solomon, B.D.; Muenke, M. (Bethesda, Md.) -- Saethre-Chotzen syndrome : clinical and molecular genetic aspects / Kress, W.; Collmann, H. (Würzburg) -- Craniofrontonasal syndrome : molecular genetics, EFNB1 mutations and the concept of cellular interference / Wieland, I. (Magdeburg)
Uncommon craniosynostosis syndromes : a review of thirteen conditions / Raam, M.S. (Bethesda, Md./Chevy Chase, Md.); Muenke, M. (Bethesda, Md.) -- Metopic craniosynostosis syndrome due to mutations in GLI3 / McDonald-McGinn, D.M.; Feret, H.; Nah, H.-D.; Zackai, E.H. (Philadelphia, Pa.) -- Craniosynostosis and chromosomal alterations / Passos-Bueno, M.R.; Fanganiello, R.D.; Jehee, F.S. (Sao Paulo) -- Nonsyndromic craniosynostoses / Collmann, H. (Würzburg); Solomon, B.D. (Bethesda, Md.); Schweitzer, T.; Kress, W. (Würzburg); Muenke, M. (Bethesda, Md.) -- Molecular genetic testing of patients with craniosynostosis / Hehr, U. (Regensburg) -- Prenatal sonographic diagnosis of craniosynostosis / Schramm, T. (Munich) -- Clinical approach to craniosynostosis / Gripp, K.W. (Wilmington, Del.) -- Imaging studies and neurosurgical treatment / Collmann, H.; Schweitzer, T.; Bohm, H. (Würzburg) -- Maxillofacial examination and treatment / Bohm, H.; Schweitzer, T.; Kübler, A. (Würzburg)
Summary Craniosynostosis - the premature fusion of the cranial sutures of an infant's skull - is a challenging and complex condition that can occur as part of a syndrome or in isolation. In the last two decades increased knowledge about the structure and function of the human genome has enabled the discovery of the molecular etiologies of most forms of syndromic craniosynostosis, which in turn has allowed for the analysis of normal and abnormal sutural biology from the atomic to the population-based level. In parallel with the increase in basic biological understanding, advances in clinical diagnosis and treatment have been achieved including improved prenatal imaging technology and craniofacial surgical techniques as well as condition-specific care in specialized hospitals and clinical units. This book represents a comprehensive overview on the subject of craniosynostosis. Its 19 excellent chapters were written by the foremost authorities in the field for a wide range of readers. They cover topics including a historical review, basic biological and molecular studies, the various common and uncommon syndromes, nonsyndromic craniosynostoses, genetic testing, prenatal ultrasonography, and recent methods of neurosurgical and maxillofacial treatment. Both investigators at the bench and clinicians at the operating table will appreciate this timely book which will be the definitive volume on craniosynostosis for many years to come
Bibliography Includes bibliographical references and indexes
Notes Print version record
Subject Craniosynostoses.
Craniosynostoses -- diagnosis
Craniosynostoses -- genetics
Craniosynostoses -- therapy
HEALTH & FITNESS -- Diseases -- Genetic.
MEDICAL -- Genetics.
Form Electronic book
Author Muenke, Maximilian
Kress, Wolfram
Collmann, Hartmut
Solomon, Benjamin
S. Karger (Firm)
ISBN 9783805595957