Description

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Thoroughly updated and revised, this new edition of the classic clinical text provides a comprehensive review of physical measurements used in the clinical evaluation of neonates, children, and adults presenting with dysmorphic features, structural anomalies, or genetic syndromes. It has been formatted as a practical manual that can be carried to the clinic or ward for an assessment of physical features and measurements.

About the Author

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Karen W. Gripp is the Chief of the Division of Medical Genetics at the A. I. du Pont Hospital for Children in Wilmington, DE, and Professor of Pediatrics at Thomas Jefferson Medical College in Philadelphia, PA. She has a longstanding clinical and research interest in Costello syndrome and other rasopathies, and in craniofacial dysmorphology. Her academic pursuits include her role as Associate Editor of the American Journal of Medical Genetics. Anne M. Slavotinek is a Professor of Clinical Pediatrics at the University of California, San Francisco, where she is involved in caring for patients and laboratory research into the etiology of birth defects. She is a clinical geneticist who has specialized in dysmorphology and multiple congenital anomaly syndromes. Judith G. Hall is Professor Emerita at the University of British Columbia. She is a clinical geneticist who has worked over the years defining specific congenital anomalies, their natural history and their etiology. She has a special interest in non-traditional mechanisms of disease, twinning and disorders of connective tissue including arthrogryposis. Judith E. Allanson is Professor of Pediatrics at the University of Ottawa and a retired clinical geneticist at Children's Hospital of Eastern Ontario. She has had a 30-year interest in Noonan syndrome and other rasopathies. Her early research years were focused on syndrome identification and how objective measures, both 2-dimensional and 3D photogrammetry, can enhance diagnosis. Over the last decade she has recognized the increasing importance of health services research to inform the transition of new genetic scientific knowledge into the health care system to benefit individual and population health, and has been fortunate to be a member of two very productive teams working in this area.