STICKLER SYNDROME

被引：12

作者：

BENNETT, JT

MCMURRAY, SW

机构：

[1] Department of Orthopaedics, Tulane University School of Medicine, New Orleans, LA

来源：

JOURNAL OF PEDIATRIC ORTHOPAEDICS | 1990年 / 10卷 / 06期

关键词：

Arthroophthalmopathy; Connective tissue dysplasia; Coxa valga; Ocular anomalies; Orofacial anomalies; Stickler syndrome;

D O I：

10.1097/01241398-199011000-00010

中图分类号：

R826.8 [整形外科学]; R782.2 [口腔颌面部整形外科学]; R726.2 [小儿整形外科学]; R62 [整形外科学（修复外科学）];

学科分类号：

摘要：

Stickler syndrome is an autosomal-dominant disorder of connective tissue characterized by skeletal, orofacial, and ocular abnormalities. The most common specific roentgenographic findings include coxa valga and widening of the femoral neck. Acetabular protrusio, chondrolysis, avascular necrosis, and vertebral changes have also been described. Premature arthritic changes are to be expected. Congenital myopia and micrognathia are the most common nonskeletal findings. This syndrome should be considered when patients have unexplained coxa valga, especially with concomitant acetabular pro-trusio. © 1990 Raven Press, Ltd., New York.

引用

页码：760 / 763

页数：4

共 9 条

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[2]

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[3]

Hermann J., France T., Spranger J.W., Opity J.M., Wiffler C., The Stickler syndrome (Hereditary arthroophthalmopathy), Birth Defects, 11, pp. 76-103, (1975)

[4]

Liberfarb R.M., Hirose T., The Wagner-Stickler syndrome, Birth Defects, 18, pp. 525-538, (1982)

[5]

Opitz J.M., France T., Herrmann J., Spranger J.W., The Stickler syndrome, N Engl J Med, 286, pp. 546-547, (1972)

[6]

Pyeritz R.E., McKusick V.A., The Marfan syndrome: Diagnosis and management, N Engl J Med, 300, pp. 772-777, (1979)

[7]

Stickler G.B., Belau P.G., Farrell F.J., Jones J.D., Pugh D.G., Steinberg A.G., Ward L.E., Hereditary progressive arthroophthalmopathy, Mayo Clin Proc, 40, pp. 433-455, (1965)

[8]

Stickler G.B., Pugh D.G., Hereditary progressive arthroophthalmopathy II: Additional observations on vertebral abnormalities, a hearing defect, and a report of a similar case, Mayo Clin Proc, 42, pp. 495-501, (1967)

[9]

Weingeist T.A., Hermsen V., Hanson J.W., Bumsted R.M., Weinstein S.L., Olin W.H., Ocular and systemic manifestations of Stickler's syndrome: A preliminary report, Birth Defects, 18, pp. 539-560, (1982)

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