Fetal and Perinatal Skeletal Dysplasias (eBook, ePUB) von Christine M Hall; Amaka C Offiah; Francesca Forzano; Mario Lituania; Gen Nishimura; Valerie Cormier-Daire

This atlas is intended to give obstetricians, paediatricians, neonatologists, radiologists, molecular and clinical geneticists and anatomo-pathologists, a thorough insight into conditions (and variants) of skeletal dysplasias. Clinical and imaging findings are properly illustrated, enriched by updated genetic information. This acclaimed text returns in a revised form, with updated material, particularly on the new knowledge surrounding the genetic basis and mechanism for the various skeletal dysplasias. No clinician dealing with fetal or neonatal skeletal diagnosis or treatment will want to be...

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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 in the European Society of Paediatric Radiology for services to paediatric radiology. In 2019 Professor Hall was awarded Honorary Membership in the International Skeletal Dysplasia Society.

Amaka C Offiah is Convener of the Skeletal Dysplasia Group for Teaching and Research, Chairperson of the European Society of Paediatric Radiology Child Abuse Taskforce, co-Chair for the North-East Region of the Experts in the Family Justice System Committee and the first black and first female Managing Editor of the journal Pediatric Radiology.

Francesca Forzano is a Clinical Geneticist with expertise in dysmorphology, skeletal dysplasias, prenatal diagnosis, genomic medicine and ethical, legal, and social issues related to human genetics and genomics. She is an active member of the European Society of Human Genetics, and a member of the International Skeletal Dysplasia Society. She has been co-director of the European Course in Genetic Counseling for the past 15 years. She is co-author of more than 90 peer-reviewed articles and chapters in books on prenatal diagnosis and congenital defects.

Mario Lituania is an obstetrician-gynaecologist and a medical geneticist (retired). He was consultant in the Division of Obstetrics and Gynaecology at Gaslini's Institute from 1977 to 2003. From 2003 he was director of the Fetal and Perinatal Medicine Unit (Maternal and Infantile Department) from E.O. Ospedali Galliera, Genova, Italy, and a contract professor at the Postgraduate School of Medical Genetics at the University of Genova (since 1991).

Gen Nishimura is a semi-retired paediatric radiologist who is currently assigned as a visiting professor at the Center for Intractable Diseases, Saitama Medical University Hospital, Japan; adjunct professor in paediatrics at the University of Utah, Utah, USA; and consultant at the 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 (the 2006, 2010, 2015, 2019, and 2023 revisions).

Pr 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 Imagine Institute (Paris). She is an active member of the European Society of Human Genetics and of the International Skeletal Dysplasia Society, and has contributed to the revisions of the International nosology of genetic skeletal disorders.

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