Cranial CT Findings in Sclerosteosis 505
نویسندگان
چکیده
Sclerosteosis is an autosomal recessive disorder characterized by bony overgrowth of the skull and tubular bones. The term was first introduced by Hansen in 1967. Until then, scierosteosis was thought to be a variant of osteopetrosis. Although the radiographic findings of this rare disorder have been described, highresolution computed tomographic (CT) findings have not. This paper discusses the CT findings in three patients with this disease and correlates them with the clinical and pathologic findings.
منابع مشابه
The radiology of sclerosteosis.
Sclerosteosis is an unusual disorder in which increased skeletal density is associated with abnormalities of bony modelling. The condition is progressive and complications arise due to cranial nerve involvement. Death from raised intracranial pressure occurs in early adulthood. In order to define the range and extent of the bony abnormalities, the radiographic features of 18 affected individual...
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Sclerosteosis is a unique autosomal recessive condition in which skeletal overgrowth is associated with syndactyly and digital malformation. Analysis of the course and clinical features in 25 affected individuals showed that the condition is progressive and potentially lethal. Facial palsy and deafness are common complications and raised intracranial pressure may develop. The clinical and radio...
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BACKGROUND Sclerosteosis is a rare bone disorder characterized by a progressive craniotubular hyperostosis. The diagnosis of sclerosteosis is based on characteristic clinical and radiographic features and a family history consistent with autosomal recessive inheritance. The skull overgrowth may lead to lethal elevation of intracranial pressure, distortion of the face, and entrapment of cranial ...
متن کاملIncreased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST).
Sclerosteosis is a progressive sclerosing bone dysplasia with an autosomal recessive mode of inheritance. Radiologically, it is characterized by a generalized hyperostosis and sclerosis leading to a markedly thickened and sclerotic skull, with mandible, ribs, clavicles and all long bones also being affected. Due to narrowing of the foramina of the cranial nerves, facial nerve palsy, hearing los...
متن کاملSclerosteosis caused by a novel nonsense mutation of SOST in a consanguineous family.
Sclerosteosis, characterized by the hyperostosis of cranial and tubular bones, is a rare autosomal recessive hereditary disorder caused by mutation of SOST gene. Four nonsense mutations of SOST have been identified worldwide. Here, we report two affected siblings who carried a novel nonsense mutation of SOST in a consanguineous family from China. The proband manifested typical symptoms of scler...
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تاریخ انتشار 2013