Preface to the Third Edition
It has been 5 years since the publication of the second edition of this atlas in 2012. Since then, significant progress has been made in the field of genetic diagnosis and counseling, especially in genomic medicine. The third edition covers 284 chapters with the addition of the following 30 new chapters: Con-genital Infiltrating Lipomatosis of the Face, Congenital Radioulnar Synostosis, Cutaneous Vasculitis, Emanuel Syndrome, Feingold Syndrome, Fibular Hemimelia, Gilbert Syndrome, Hemangiomas of Infancy, Hereditary Sensory and Autonomic Neuropathies, Hereditary Spastic Paraplegia, Hydranencephaly, Hypertrophic Cardiomyopathy, Isolated Growth Hormone Deficiency in Chil-dren, Lymphangiomas and Lymphangiomatosis, Macrodactyly, Mitochondrial Myopathies, Mőbius Syndrome, Nager Acrofacial Dysostosis, Nasal Obstruc-tion in Neonates and Children, Niemann-Pick Disease, Opitz Trigonocephaly Syndrome, Osteogenesis Imperfecta/Ehlers-Danlos Syndrome Overlap Syn-drome, Patellar Instability, Peutz-Jeghers Syndrome, Primary Microcephaly, Schwartz-Jampel Syndrome, Symphalangism, Tibial Hemimelia, Tyrosinemias, and Winchester Syndrome.
As with the previous edition, a detailed outline of each chapter is provided, describing the genetics/basic defects, clinical features, diagnostic investiga-tions, and genetic counseling including recurrence risk, prenatal diagnosis, and management. The illustrative cases are supplemented by case history and diagnostic confirmations through imaging, cytogenetic, biochemical, and/or molecular genetic studies. In this edition, it was a formidable task trying to cite the relevant references in the text, which was not done in the previous editions.
In addition to the individual contributions mentioned in the acknowledg-ments in previous editions, I thank the following individuals for their contri-bution and support to this edition: Richard A. Hruska, Springer Publishing Editor, for inviting me to write this third edition of the atlas and Neha Thapa, Springer Editor, and K. Arun Kumar, Springer Project Manager, for editing and production of this atlas. Individual contributors have been acknowledged in the case illustrations. I am especially thankful to the staff at the Shreveport Shriners Hospitals for Children (Kim Green, administrator; Dee Chambers, Medical Staff Coordinator; Kim Blankenship, Director of Outpatient Clinic; Dr. John Fox, Chief of Staff; Dr. Anne Hollister, hand surgeon; Dr. Don Holton, radiologist; Sheila Barritt, Director of Radiology) and staff at LSU School of Medicine (Dr. Susonne Ursin, clinical geneticist; Mary Moore, BBA, Administrative Assistant; Dr. Joseph Bocchini, Chairman of theDepartment of Pediatrics; Dr. Jennifer Woerner, Program Director of Craniofacial Fellowship and Oralmaxillofacial Residency Program; Diane DunkiJacobsNolten, RN, Clinical Coordinator; and Dr. Ghali Ghali, Chancel-lor and Dean of School of Medicine and Chairman of the Department of Oral and Maxillofacial Surgery). Special thanks are due to Dr. Grace Guo, a pediatric radiologist at Nemours/Alfred I. duPont Hospital for Children, for her contributions to cases with excellent imagings provided throughout this atlas.
As previously, I would welcome comments, corrections, and criticism from readers.
Shreveport, LA, USA Harold Chen February 2017
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