title: Arthrogryposis, ophthalmoplegia, and retinopathy: confirmation of a new type of arthrogryposis.
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.
authors.affiliation: Department of Clinical Genetics, Academic Hospital, Maastricht, The Netherlands.
authors.forename: C T
authors.initials: CT
authors.lastname: Schrander-Stumpel
authors.forename: C J
authors.initials: CJ
authors.lastname: Höweler
authors.forename: A D
authors.initials: AD
authors.lastname: Reekers
authors.forename: N M
authors.initials: NM
authors.lastname: De Smet
authors.forename: J G
authors.initials: JG
authors.lastname: Hall
authors.forename: J P
authors.initials: JP
authors.lastname: Fryns
mesh_terms: D000293:Adolescent; D001176:Arthrogryposis / Q000145:classification* / Q000473:pathology*; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008423:Maternal Age; D009886:Ophthalmoplegia; D010331:Paternal Age; D012164:Retinal Diseases