Infante Ignacio, Mackintosh Cecilia, Anoni Clara, Otero Eduardo, Galeano Monica
Final Pr. ID: Poster #: EDU-012 (S)
The objective of this review is to summarize the earliest radiological findings of AMC (arthrogryposis multiplex congenital), detail the most frequently affected joints, identify associated syndromes, and expose the radiological findings in children whose therapy was delayed. Read More
Authors: Infante Ignacio , Mackintosh Cecilia , Anoni Clara , Otero Eduardo , Galeano Monica
Keywords: joint contractures, associated syndromes, pediatric radiology
Final Pr. ID: Poster #: CR-010
Van Den Ende-Gupta syndrome (VDEGS) is an extremely rare autosomal recessive disorder with mutation of SCARF2. It is characterized by distinctive craniofacial and skeletal manifestations include blepharophimosis, a narrow nose, malar hypoplasia, deformed ears, an everted lower lip, flexion contractures, camptodactyly, arachnodactyly and dolichostenomelia, while development and intelligence are normal. It needs a regular follow-up with orthopedics because of joint contracture deformity and scoliosis.
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Authors: Choi Young-youn
Keywords: multiple joint contracture, craniofacial abnormalities, autosomal recessive disorder