Arthrogryposis multiplex congenita: a report of two cases.
Arthrogryposis multiplex congenita refers to a group of birth defects characterised by multiple joint contractures. The syndrome is caused by neuropathic disease, myopathic disease, or any other cause of decreased fetal joint mobility. Multiple and usually symmetric joint abnormalities with associated muscular and soft tissue hypoplasia are noted at birth. A variety of associated congenital anomalies affecting many organ systems are frequently found. Ocular and orbital findings have been described in patients with arthrogryposis but corneal disease has only rarely been reported. We present corneal findings in two patients with arthrogryposis and discuss the implications for disease pathogenesis. Previous ophthalmologic reports are also reviewed.
Brooks
J G
JG
Department of Ophthalmology, Flinders Medical Centre, Bedford Park, South Australia.
Coster
D J
DJ
D000293:Adolescent; D001176:Arthrogryposis / Q000150:complications*; D003315:Cornea / Q000294:innervation; D003316:Corneal Diseases / Q000209:etiology* / Q000473:pathology; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009475:Neurons, Afferent / Q000473:pathology