Title
Mesomelic dysplasia with acral synostoses VerloesDavidPfeiffer type : follow-up study documents progressive clinical course Mesomelic dysplasia with acral synostoses VerloesDavidPfeiffer type : follow-up study documents progressive clinical course
Author
Faculty/Department
Faculty of Medicine and Health Sciences
Publication type
article
Publication
Bognor Regis ,
Subject
Human medicine
Source (journal)
American journal of medical genetics : part A. - Bognor Regis, 2003, currens
Volume/pages
149(2009) :10 , p. 2220-2225
ISSN
1552-4825
1552-4833
ISI
000270745000025
Carrier
E
Target language
English (eng)
Full text (Publishers DOI)
Abstract
VerloesDavidPfeiffer 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 VerloesDavidPfeiffer 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.
E-info
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