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 ...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.展开更多
An 11-year-old boy had a history of easy bruising and poorly healing wounds since infancy and severe, early-onset periodontitis. He also exhibited mild hypermobility of the small joints of the hands, long limbs with s...An 11-year-old boy had a history of easy bruising and poorly healing wounds since infancy and severe, early-onset periodontitis. He also exhibited mild hypermobility of the small joints of the hands, long limbs with striking arachnodactyly, and a triangular face with delicate features. Analysis of type I and type III collagens revealed no abnormalities. These findings were consistent with a diagnosis of Ehlers-Danlos syndrome typeVIII (EDS-VIII), an autosomal dominant connective tissue disorder that was recently mapped to chromosome 12q13. We draw attention to the clinical features that typify EDS-VIII, including extensive pretibial bruising, a marfanoid body habitus, and characteristic facies, as well as childhood onset of progressive periodontal disease.展开更多
文摘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.
文摘An 11-year-old boy had a history of easy bruising and poorly healing wounds since infancy and severe, early-onset periodontitis. He also exhibited mild hypermobility of the small joints of the hands, long limbs with striking arachnodactyly, and a triangular face with delicate features. Analysis of type I and type III collagens revealed no abnormalities. These findings were consistent with a diagnosis of Ehlers-Danlos syndrome typeVIII (EDS-VIII), an autosomal dominant connective tissue disorder that was recently mapped to chromosome 12q13. We draw attention to the clinical features that typify EDS-VIII, including extensive pretibial bruising, a marfanoid body habitus, and characteristic facies, as well as childhood onset of progressive periodontal disease.
