title: Juvenile macular dystrophy and forearm pronation-supination restriction presenting with features of distal arthrogryposis type 5.
abstract: The distal arthrogryposes are a heterogeneous group of conditions characterized by congenital contractures of hands and feet, and autosomal dominant inheritance. The concurrence of ophthalmoplegia and additional ocular findings distinguish distal arthrogryposis type 5 (DA5). This rare subtype has been described in 33 patients to date and its clinical spectrum of physical findings is still poorly understood. We report on a family with three individuals with DA5. The index case came to our attention because of restricted forearm pronation-supination and juvenile macular dystrophy. Further examination revealed short stature, firm muscles, stiff spine with lumbar hyperlordosis, generalized mild limitation of the large joints, external rotation of the hips, unilateral ptosis, exophoria, and abnormal photopic and scotopic responses on electroretinogram testing. However, there was no overt evidence of contractures of the distal joints. Examination of other affected family members revealed restricted range of movement of the small joints together with ulnar deviation of the fingers, and clarified the diagnosis. Our observations suggest that DA5 may have a very mild musculoskeletal phenotype and it should be considered in the differential of congenital contracture syndromes even in the absence of obvious distal joint involvement. Our observations also suggest that fundoscopy and ocular electrophysiological studies might be helpful in the evaluation of patients with otherwise unclassified distal arthrogryposes.
authors.affiliation: Medical Genetics, Experimental Medicine Department, Sapienza-University of Rome, San Camillo-Forlanini Hospital, Rome, Italy. mcastori@scamilloforlanini.rm.it
authors.forename: Marco
authors.initials: M
authors.lastname: Castori
authors.forename: Rosanna
authors.initials: R
authors.lastname: Rinaldi
authors.forename: Luana
authors.initials: L
authors.lastname: Barboni
authors.forename: Paolo
authors.initials: P
authors.lastname: Tanzilli
authors.forename: Michael
authors.initials: M
authors.lastname: Bamshad
authors.forename: Paola
authors.initials: P
authors.lastname: Grammatico
mesh_terms: D001176:Arthrogryposis / Q000145:classification* / Q000175:diagnosis / Q000235:genetics*; D005542:Forearm; D006801:Humans; D008297:Male; D010375:Pedigree; D011403:Pronation; D012164:Retinal Diseases / Q000235:genetics*; D013484:Supination; D055815:Young Adult