Mesomelic dysplasia with acral synostoses VerloesDavidPfeiffer type : follow-up study documents progressive clinical course

Isidor, Bertrand; Hamel, Antoine; Plasschaert, Frank; Claus, Lieve; Mercier, Jacques-Marie; Mortier, Geert R.; Leroy, Jules G.; Verloes, Alain; David, Albert

doi:10.1002/AJMG.A.32926

Title

Mesomelic dysplasia with acral synostoses VerloesDavidPfeiffer type : follow-up study documents progressive clinical course

Author

Isidor, Bertrand

Hamel, Antoine

Plasschaert, Frank

Claus, Lieve

Mercier, Jacques-Marie

Mortier, Geert R.

Leroy, Jules G.

Verloes, Alain

David, Albert

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.

Language

English

Source (journal)

American journal of medical genetics : part A. - Bognor Regis, 2003, currens

Publication

Bognor Regis : 2009

ISSN

1552-4825 [print]

1552-4833 [online]

DOI

10.1002/AJMG.A.32926

Volume/pages