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Arthrogryposis: A Review and Update

2009/07/01 by Michael J. Bamshad, Michael Bamshad, Ann E. Van Heest +1 · 26 citations
Medicine · #Neurogenetic and Muscular Disorders Research #Congenital Anomalies and Fetal Surgery

paper · doi:10.2106/jbjs.i.00281

Abstract

ongenital contractures can be divided into two groups: isolated contractures and multiple contractures (Fig. 1). Isolated congenital contractures affect only a single area of the body; the most common isolated contracture is congenital clubfoot, which occurs in one of every 500 live births1. The term arthrogryposis is often used as shorthand to de-scribe multiple congenital contractures that affect two or more different areas of the body. Arthrogryposis is not a specific di-agnosis, but rather a clinical finding, and it is a characteristic of more than 300 different disorders2,3. The overall prevalence of arthrogryposis is one in 3000 live births4. The inheritance, natural history, treatment guidelines, and outcomes of arthro-gryposis vary among disorders, underscoring the importance of making a specific diagnosis in each child1,5-10. The purpose of this

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