Ophthalmological And Systemic Findings Associated With Arthrogryposis Multiplex Congenita

Abstract

Arthrogryposis multiplex congenital (AMC) is a birth defect characterised by multiple joint contractures and is associated with various other congenital abnormalities. Various systemic associations like cleft palate, low set ears, gastrointestinal (GI) abnormalities, congenital heart defects, hypoplastic lungs and cryptorchidism have been described with this syndrome. A detailed clinical examination comprising of ophthalmic , orthopaedic, paediatric, orthoptic, ENT, haematologic and neurologic review of two babies with AMC was undertaken. These cases presented some never before described ocular and systemic abnormalities in association with AMC. We suggest a close multidisciplinary follow up on all cases of arthrogryposis multiplex congenita to detect, report and better understand these associations.