Arthrogryposis, ophthalmoplegia, and retinopathy: confirmation of a new type of arthrogryposis. Issue 1 (January 1993)

• Record Type: Journal Article
• Authors: Schrander-Stumpel, C T; Höweler, C J; Reekers, A D; De Smet, N M; Hall, J G; Fryns, J P
• Is Part Of: Journal of medical genetics. Volume 30:Issue 1(1993)
• Page Start: 78
• Page End: 80
• Publication Date: 1993-01
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.30.1.78
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : Arthrogryposis multiplex congenita is a heterogeneous condition and many different types are clinically recognisable. Recently, a new type of autosomal dominant arthrogryposis was described in a father and son. We report on a male patient with similar clinical features, confirming this distinct type of arthrogryposis. The condition is characterised by congenital contractures of the hands and feet with diminished or absent phalangeal creases, ophthalmoplegia, a rigid trunk, deep set eyes, and (in the oldest patient) an abnormal electroretinogram. Differential diagnosis from amyoplasia, the different types of distal arthrogryposis, and symphalangism is discussed.