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July September 2018 | Vol. 11 | Issue 3 | 6-10
Congenital Joint Contractures and Pterygia with Multiple Fractures: A Novel Mutation in the PLOD2 Gene
Veronica Arora1, K K Saxena2, Pratibha Bhai1, Renu Saxena1, I C Verma1, Ratna Dua Puri1
1Institute of Medical Genetics and Genomics, 2Department of Radiodiagnosis, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi 110060
Address for Correspondence Email: ratnadpuri@yahoo.com
Arthrogryposis multiplex congenita (AMC) or arthrogryposis describes congenital joint contracture in two or more joints. The combination of fractures and pterygia with arthrogryposis is scantly reported in literature. Here we describe a case with osteogenesis imperfecta (OI)- like bone fragility in association with congenital contractures and pterygia with normal intellect. A novel mutation in the PLOD2 gene causing the above phenotype was identified in the proband. Such cases are frequently mislabelled as OI. The aim is to alert clinicians to look for this rare syndrome in patients with an OI-like phenotype. The differentials and most recent management and therapeutic options are also discussed.
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