Intrinsic errors of skeletal development are individually rare but of clinical importance because of their overall frequency and their impact on a patient’s life. Sonography has become a routine component of prenatal care, and many of these disorders are diagnosed prenatally. Postnatally, the prenatal diagnosis has to be verified. To this end, fetal radiography is an effective, simple and economic way to establish a diagnosis or to narrow the number of diagnostic possibilities sufficiently to enable pathological, biochemical or molecular studies to be used in the quest for a specific diagnosis. Equally important, a correct diagnosis is required for correct prognostication and parental counseling. This book has been written to assist in the postnatal diagnosis of fetal errors of skeletal development.
Spis treści
Development of the normal fetal skeleton.- Differential diagnosis of single skeletal defects: Limbs. Spine. Ventral body wall defects.- The osteochondrodysplasias: Skeletal dysplasias (SDs) with prominent shortness of the tubular bones.- SDs with congenital bowing and normal bone density.- SDs with decreased bone density, with or without bowing.- SDs with slender bones. SDs with thick bones.- SDs with short ribs, with or without polydactyly.- Chondrodysplasia punctata group.- SDs with prominent involvement of the humeri or clavicles. Dysplasias with prominent involvement of the mesial and acral skeleton.- SDs with increased bone density.
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