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Mesomelic dysplasia with acral synostoses Verloes-David-Pfeiffer type: Follow-up study documents progressive clinical course
American Journal of Medical Genetics, 09/03/09
Isidor B et al. – The authors confirm that the Verloes–David–Pfeiffer syndrome (VDPS) is a progressive skeletal disorder that despite repeated corrective surgical intervention leads to severe limb deformities. No mutations were detected in the FLNB gene. The latter is characterized in this study as a syndromic type of skeletal dysplasia because besides congenital malformations and multiple acromelic synostoses arising prenatally, VDPS manifests in postnatal life as a severe osteochondrodysplasia.
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