Skeletal dysplasias are rare, they may be genetic, sporadic or environmentally determined conditions, affecting bone and cartilage growth and development. The genetic mutations continue to exert their influence throughout the life of the affected individual. This unique, full colour atlas features 132 conditions with 2300 images of over 500 patients. It brings together the wide-ranging clinical disciplines involved in pre and postnatal care and diagnosis and presents perinatal images of rare skeletal disorders to include skeletal dysplasias and malformation syndromes on a case-by-case basis. It presents the most up-to-date information on the individual conditions to include the mode of inheritance (autosomal dominant or recessive, or non-genetic), the Mendelian Inheritance in Man number (MIM) for further reference reading, the locus (the chromosome number and position on the affected chromosome), the mutated gene and the affected protein. Each condition has a brief summary including synonyms, incidence, genetics, age at presentation, clinical, prenatal ultrasound and postnatal radiological features, bone histology, prognosis and differential diagnosis. Images are presented with each case illustrating different imaging modalities and with gross and/or histopathology findings. Brief clinical findings are also given where available. It is of great value to all clinicians and technicians working in fetal medicine and neonatal care. It greatly assists in diagnostic accuracy and provides clinicians and affected families with the information needed to make informed management decisions.
This book provides readers with a comprehensive evaluation of paediatric radiographs in preparation for the demanding Rapid Reporting component of the Fellowship of the Royal College of Radiologists (FRCR) Part 2B examination, where the margin between pass and fail is very narrow. While other resources may include only a handful of paediatric images in a practice reporting packet, this book is dedicated solely to improving paediatric reporting skill and knowledge. It is designed to address an important deficiency identified in the FRCR Part 2B Examiners’ Report, in that “many candidates struggle with interpretation of paediatric imaging – even for common paediatric pathologies”. The ten practice tests presented, each with 30 images, will assist readers not only in passing the examination but also in the real world when they have to report paediatric radiographs independently. The range of cases covered, from neonate to adolescent, delivers a sound knowledge of both common paediatric fracture patterns and patterns which are subtler but require a definitive answer as to whether they are normal or abnormal. Guidance is also provided on how to describe each abnormality.
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 without access to the wealth of illustrations and detail condensed here. Presents a clear and consistent rubric for approaching approximately 150 types of skeletal dysplasias Meets the needs of clinical gynaecologists, obstetricians, paediatricians, radiologists and geneticists Offers an essential, concise resource for the diagnosis of skeletal dysplasias which present prenatally and perinatally
This book provides readers with a comprehensive evaluation of paediatric radiographs in preparation for the demanding Rapid Reporting component of the Fellowship of the Royal College of Radiologists (FRCR) Part 2B examination, where the margin between pass and fail is very narrow. While other resources may include only a handful of paediatric images in a practice reporting packet, this book is dedicated solely to improving paediatric reporting skill and knowledge. It is designed to address an important deficiency identified in the FRCR Part 2B Examiners’ Report, in that “many candidates struggle with interpretation of paediatric imaging – even for common paediatric pathologies”. The ten practice tests presented, each with 30 images, will assist readers not only in passing the examination but also in the real world when they have to report paediatric radiographs independently. The range of cases covered, from neonate to adolescent, delivers a sound knowledge of both common paediatric fracture patterns and patterns which are subtler but require a definitive answer as to whether they are normal or abnormal. Guidance is also provided on how to describe each abnormality.
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