摘要
Background: We report what is probably the first report of an association betw een congenital contractural arachnodactyly (CCA) and Brown’s syndrome. Case rep ort: A 7 1/2-year-old boy exhibited characteristic signs of CCA:multiple flexi on contractures, marfanoid habitus and “crumpled”ears. In addition, the boy ha d Brown’s syndrome. He had an up-gaze deficit and a slight down-shoot of the left eye in adduction. He held his head tilted to the left shoulder. As the caus e, computed tomography revealed a thickening of the superior oblique muscle tend on near the trochlea. A molecular genetic examination revealed a mutation of Fib rillin-2 (FBN2-5q 23-q 31). Conclusions: The association of the CCA and Brown ’s syndrome seems to be very rare. A specific link between the two mesenchymal disorders was not found. Probably the combination was coincidental.
Background: We report what is probably the first report of an association betw een congenital contractural arachnodactyly (CCA) and Brown's syndrome. Case rep ort: A 7 1/2-year-old boy exhibited characteristic signs of CCA:multiple flexi on contractures, marfanoid habitus and “crumpled”ears. In addition, the boy ha d Brown's syndrome. He had an up-gaze deficit and a slight down-shoot of the left eye in adduction. He held his head tilted to the left shoulder. As the caus e, computed tomography revealed a thickening of the superior oblique muscle tend on near the trochlea. A molecular genetic examination revealed a mutation of Fib rillin-2 (FBN2-5q 23-q 31). Conclusions: The association of the CCA and Brown 's syndrome seems to be very rare. A specific link between the two mesenchymal disorders was not found. Probably the combination was coincidental.
出处
《世界核心医学期刊文摘（眼科学分册）》
2005年第11期59-60,共2页
Digest of the World Core Medical Journals:Ophthalmology
