title: A family with autosomal dominant distal arthrogryposis multiplex congenita and brown syndrome.
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.
authors.affiliation: Institute of Ophthalmology, University of Chieti, Chieti, Italy. l.lobefalo@eye.unich.it
authors.forename: L T
authors.initials: LT
authors.lastname: Lobefalo
authors.forename: A T
authors.initials: AT
authors.lastname: Mancini
authors.forename: M T
authors.initials: MT
authors.lastname: Petitti
authors.forename: A E
authors.initials: AE
authors.lastname: Verrotti
authors.forename: G E
authors.initials: GE
authors.lastname: Della Loggia
authors.forename: A E
authors.initials: AE
authors.lastname: Di Muzio
authors.forename: F E
authors.initials: FE
authors.lastname: Chiarelli
authors.forename: P E
authors.initials: PE
authors.lastname: Gallenga
mesh_terms: D000293:Adolescent; D000328:Adult; D001176:Arthrogryposis / Q000150:complications* / Q000235:genetics / Q000473:pathology; D005123:Eye / Q000000981:diagnostic imaging / Q000473:pathology; D005192:Family Health; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D015835:Ocular Motility Disorders / Q000150:complications* / Q000235:genetics / Q000473:pathology; D009801:Oculomotor Muscles / Q000000981:diagnostic imaging; D010375:Pedigree; D014463:Ultrasonography