RESUMO
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. In one case, the pancreas was abnormal in shape, without a tail and the spleen was not identified. Ectopic splenic tissue and intestinal malrotation were identified and were suggestive of a laterality disorder. Whether these two cases should be considered an atypical form of SRP cannot be completely resolved at this present time and will need to wait on further progress in molecular testing.
Assuntos
Anormalidades Múltiplas/patologia , Calcinose/patologia , Deformidades Congênitas dos Membros/patologia , Osteocondrodisplasias/patologia , Polidactilia/patologia , Complicações na Gravidez , Síndrome de Costela Curta e Polidactilia/patologia , Adulto , Osso e Ossos/anormalidades , Osso e Ossos/diagnóstico por imagem , Feminino , Humanos , Masculino , Gravidez , Radiografia , IrmãosRESUMO
A 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. On MRI, it was of predominantly soft-tissue signal intensity with intense enhancement following administration of i.v. contrast medium. Histopathological examination diagnosed the lesion as a soft-tissue aneurysmal bone cyst. This is the fourth paediatric case of this very rare benign tumour.
