How to Cite this Article: Isidor B, Hamel A, Plasschaert F, Claus L, Mercier J-M, Mortier GR, Leroy JG, Verloes A, David A. 2009. Mesomelic dysplasia with acral synostoses Verloes–David–Pfeiffer type: Follow-up study documents progressive clinical course. Am J Med Genet Part A 149A:2220–2225.
Mesomelic dysplasia with acral synostoses Verloes–David–Pfeiffer type: Follow-up study documents progressive clinical course†
Article first published online: 1 SEP 2009
Copyright © 2009 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 149A, Issue 10, pages 2220–2225, October 2009
How to Cite
Isidor, B., Hamel, A., Plasschaert, F., Claus, L., Mercier, J.-M., Mortier, G. R., Leroy, J. G., Verloes, A. and David, A. (2009), Mesomelic dysplasia with acral synostoses Verloes–David–Pfeiffer type: Follow-up study documents progressive clinical course. Am. J. Med. Genet., 149A: 2220–2225. doi: 10.1002/ajmg.a.32926
- Issue published online: 24 SEP 2009
- Article first published online: 1 SEP 2009
- Manuscript Accepted: 23 MAR 2009
- Manuscript Received: 7 AUG 2008
- mesomelic dysplasia Verloes–David–Pfeiffer type;
- acral synostoses;
- carpometacarpal and tarsometatarsal synostoses;
- autosomal-dominant inheritance
Verloes–David–Pfeiffer mesomelia-synostoses syndrome is an autosomal-dominant form of mesomelic dysplasia comprising typical acral synostoses combined with ptosis, hypertelorism, palatal abnormality, CHD, and ureteral anomalies. Since the original reports in 1995, two other patients have been described with this syndrome, one of them the patient reported in 1998 by Day-Salvatore. In this article, we report on the follow-up of some of the original cases and review the literature. We 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. To date, the cause and the pathogenesis of VDPS remain unknown. 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. © 2009 Wiley-Liss, Inc.