[...]... history of every aspect and type of craniosynostosis, a discussion of the discovery of a number of craniosynostosis-related syndromes is nonetheless valuable and informative First, in 1906, Eugène Charles Apert, a French pediatrician, described a child affected with acrocephaly and syndactyly of the hands and feet [11] (On a related but unfortunate side note, Apert was a vocal proponent of eugenics and. .. Collmann H, Solomon BD (eds): Craniosynostoses: Molecular Genetics, Principles of Diagnosis, and Treatment Monogr Hum Genet Basel, Karger, 2011, vol 19, pp 13–27 Regulation of Calvarial Bone Growth by Molecules Involved in the Craniosynostoses M.D Benson и L.A Opperman Texas A&M Health Science Center, Baylor College of Dentistry, Dallas, Tex., USA Abstract The development and growth of the mammalian cranium... importance of a full understanding of molecular signaling in the calvarial bone growth centers Not only is continued elucidation of the pathways downstream of each receptor critical, but also the higher order interactions of cross talk between receptor classes Our current, primitive level of understanding is already allowing development of rudimentary treatments of bone growth defects such as anti-TGFβ2 treatment. .. genetic knowledge Indeed, the lesson of the discovery of Muenke syndrome is that thorough clinical and molecular investigations must proceed together in order to advance our understanding of rare diseases Overall, the FGFR-associated craniosynostoses are a prime example of current trends in molecular medicine’, which allow clinicians and researchers a glimpse of the future of genetic medicine Using Solomon... clinicians, many residents, many craniofacial biologists, many molecular geneticists, and many students This will be the definitive volume on craniosynostosis for many years to come! M Michael Cohen Jr Halifax (Canada), July 2010 Foreword Chapter 1 Muenke M, Kress W, Collmann H, Solomon BD (eds): Craniosynostoses: Molecular Genetics, Principles of Diagnosis, and Treatment Monogr Hum Genet Basel, Karger,... presence of 14 deaths in 33 cases, are stains Craniosynostosis History on your hands and sins on your souls No ocean of soap and water will clean those hands .’ [2, 31, 32] Thereafter, surgery on craniosynostosis was abandoned for nearly two decades Today, neurosurgery (in cooperation with maxillofacial or plastic surgery) is a mainstay of treatment, though the optimal technique continues to evolve and. .. Kress W, Collmann H, Solomon BD (eds): Craniosynostoses: Molecular Genetics, Principles of Diagnosis, and Treatment Monogr Hum Genet Basel, Karger, 2011, vol 19, pp 8–12 Discovery of MSX2 Mutation in Craniosynostosis: A Retrospective View U Müller Institut für Humangenetik, Justus-Liebig-Universität, Gießen, Germany Abstract This is a historical review of the discovery of the first mutation detected in... condition, the advent of modern classification schemes, more recent gene discoveries involving the molecular causes of many types of craniosynostosis, and evolving aspects of the management of affected patients Copyright © 2011 S Karger AG, Basel General History Descriptions and definitions of craniosynostosis have a long and complicated history that stretches over many millenia Depictions of affected individuals... surgical treatment in the craniosynostoses In Chaper 18, Hartmut Collmann and his colleagues deal with imaging studies and neurosurgical treatment They indicate that the diagnosis of craniosynostosis is primarily a matter of careful clinical examination with the use of imaging to verify the clinical diagnosis, to detect other possible sutures involved, to look for signs of intracranial hypertension, and. .. posterior part of the interfrontal suture However, the establishment of several mouse models of craniosynostosis has guided us in the identification of a number of factors that contribute to maintenance of suture patency Transplantation studies done in the mid-1990s defined the contribution of the surrounding tissue environment to formation and maintenance of this critical structure Opperman and colleagues . Craniosynostoses Molecular Genetics, Principles of Diagnosis, and Treatment Monographs in Human Genetics Vol. 19 Series Editor Michael Schmid Würzburg Craniosynostoses Molecular Genetics, Principles. Collmann H, Solomon BD (eds): Craniosynostoses: Molecular Genetics, Principles of Diagnosis, and Treatment. Monogr Hum Genet. Basel, Karger, 2011, vol 19, pp 8–12 Discovery of MSX2 Mutation in Craniosynostosis:. Chapter 5, Andrew Beenken and Moosa Mohammadi ad- dress the molecular mechanisms of FGFR activa- tion in craniosynostosis and in some of the skel- etal dysplasias, and discuss ligand- independent