Fetal and Perinatal Skeletal Dysplasias - Offiah, Amaka C; Hall, Christine M; Forzano, Francesca; Nishimura, Gen; Lituania, Mario; Cormier-Daire, Valerie
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This atlas will give all relevant clinicians a thorough insight into conditions and variants of skeletal dysplasias. Findings are properly illustrated, updated material includes new knowledge on the genetic basis and mechanism.

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Produktbeschreibung
This atlas will give all relevant clinicians a thorough insight into conditions and variants of skeletal dysplasias. Findings are properly illustrated, updated material includes new knowledge on the genetic basis and mechanism.
Autorenporträt
Christine M Hall was a founding member of the International Skeletal Dysplasia Society in 1999 and was president in 2000 and 2001. She hosted an international meeting for this society in Oxford in 2001 and was also Chairman of the Committee for the International Nomenclature and Classification of Constitutional Disorders of Bone. She was a founding member of the Skeletal Dysplasia Society for Teaching and Research (SDG) UK in 1978 and is actively involved with this group, which has a membership of about 300. In 2004 Professor Hall was awarded Honorary Membership of the European Society of Paediatric Radiology for services to paediatric radiology. In 2019 Professor Hall was awarded Honorary Membership of the International Skeletal Dysplasia Society. Amaka C Offiah is the first black and first female Managing Editor of the journal Pediatric Radiology, Convener of the Skeletal Dysplasia Group for Teaching and Research, Chairperson of the European Society of Paediatric Radiology Child Abuse Taskforce, and co-Chair for the North-East Region of the Experts in the Family Justice System Committee. Francesca Forzano is the current Chair of the Public and Professional Policy Committee of the European Society of Human Genetics, and a member of the Scientific Programme Committee of the ESHG annual conference. She has been co-director of the European Course in Genetic Counseling in Practice for the past 15 years. Mario Albino Lituania is a retired Consultant Obstetrician Gynaecologist from Galliera Hospital, Genova, Italy. From 2003 he was Director of the Fetal and Perinatal Medicine Unit at Galliera Hospital, and Contract Professor at the graduate school of Medical Genetics at the University of Genova (since 1991). Gen Nishimura is a semi-retired pediatric radiologist, who is currently assigned as Visiting Professor, Center for Intractable Diseases, Saitama Medical University Hospital, Japan; Adjunct Professor, Pediatrics, the University of Utah, Utah, USA; and Consultant, K1 Department of Molecular Medicine and Surgery, Karolinska Institute, Stockholm, Sweden. He has also contributed to recent revisions of the International Nosology and Classification of Genetic Skeletal Disorders (2006, 2010, 2015, 2019, 2023 revisions). Valérie Cormier-Daire is a medical geneticist (MD, PhD), Professor of Genetics (Université Paris Cité, Hôpital Necker Enfants Malades). She is the head of the French Reference Center for Skeletal Dysplasia (SD), involved in the diagnosis and management of SD, from the antenatal period to adulthood. She is also responsible for a research team working on osteochondrodysplasia in INSERM Unit 1163, in Imagine Institute, since 1999, with a strong interest in translational research. She is currently PI of several clinical trials targeting SD (mainly OI and achondroplasia). Her track record includes 490 publications.