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Fetal and Perinatal Skeletal Dysplasias - an Atlas of Multimodality Imaging (Hardcover, 1 New Ed)
Loot Price: R5,306
Discovery Miles 53 060
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Fetal and Perinatal Skeletal Dysplasias - an Atlas of Multimodality Imaging (Hardcover, 1 New Ed)
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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.
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