Author： Lobefalo Lucio Mancini Adriano Petitti Maria T. Verrotti Alberto Della Loggia Giuseppe Di Muzio Antonio Chiarelli Francesco Gallenga Pier E.
Publisher： Informa Healthcare
ISSN： 1381-6810
Source： Ophthalmic Genetics, Vol.20, Iss.4, 1999-12, pp. : 233-241
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Abstract
Arthrogryposis multiplex congenita is a heterogeneous condition found in a number of different disorders and characterized by congenital joint contractures. We describe typical signs of congenital Brown syndrome (inability to elevate the affected eye actively or passively in full adduction) in three relatives with distal arthrogryposis multiplex congenita. We found a thickening of the superior oblique muscles in these patients with pain and increased intraocular pressure in upgaze. The pathogenesis of clinical and morphological findings is discussed. The association of Brown syndrome with distal arthrogryposis multiplex congenita has not been previously reported and provides us with an important point of reference in the understanding of both syndromes.
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