The short rib-polydactyly (SRP) group are lethal skeletal dysplasias with an autosomal recessive inheritance pattern that can be distinguished on radiological and histological grounds. We report on two consecutive pregnancies complicated by a SRP syndrome with acromesomelic hypomineralization and campomelia that cannot be definitely categorized, yet possesses features of this group of conditions. The skeletal changes observed in both cases included markedly shortened ribs, shortened humeri and femora, limb bowing, absent ossification of the radii, ulnae, tibiae and fibulae, as well as the bony elements of the hands and feet, hypoplastic scapulae and peritoneal calcifications.
View Article and Find Full Text PDFA soft-tissue aneurysmal bone cyst located on the lateral aspect of the left thigh of a 12-year-old girl is described. Conventional radiography of the thigh was normal. Sonography showed a hypoechoic mass with a feeding vessel and intralesional vascularity.
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