Three cases of Japanese acromicric/geleophysic dysplasia with FBN1 mutations: a comparison of clinical and radiological features
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DOI: 10.1515/jpem-2016-0258
Abstract: Abstract Acromicric dysplasia (AD) and geleophysic dysplasia (GD) are rare skeletal dysplasias characterized by short stature, acromelia, joint contracture, hepatomegaly, hoarseness and respiratory distress. Compared with GD, AD presents with milder clinical and radiological features.… read more here.
Keywords: radiological features; fbn1 mutations; clinical radiological; features three ... See more keywords