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Mesomelic Dysplasia With Acral Synostoses Verloes-David-Pfeiffer Type: Follow-Up Study Documents Progressive Clinical Course

Bertrand Isidor, Antoine Hamel, Frank Plasschaert UGent, Lieve Claus, Jacques-Marie Mercier, Geert Mortier UGent, Juliaan Leroy UGent, Alain Verloes and Albert David (2009) AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 149A(10). p.2220-2225
abstract
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.
Please use this url to cite or link to this publication:
author
organization
year
type
journalArticle (original)
publication status
published
keyword
SPONDYLOCARPOTARSAL SYNOSTOSIS, ANOMALIES
journal title
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Am. J. Med. Genet. A
volume
149A
issue
10
pages
6 pages
publisher
WILEY-LISS
place of publication
HOBOKEN
Web of Science type
Article
Web of Science id
000270745000025
JCR category
GENETICS & HEREDITY
JCR impact factor
2.404 (2009)
JCR rank
77/142 (2009)
JCR quartile
3 (2009)
ISSN
1552-4825
DOI
10.1002/ajmg.a.32926
language
English
UGent publication?
yes
classification
A1
id
839102
handle
http://hdl.handle.net/1854/LU-839102
date created
2010-01-26 11:59:08
date last changed
2015-06-17 11:20:47
@article{839102,
  abstract     = {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.},
  author       = {Isidor, Bertrand and Hamel, Antoine and Plasschaert, Frank and Claus, Lieve and Mercier, Jacques-Marie and Mortier, Geert and Leroy, Juliaan and Verloes, Alain and David, Albert},
  issn         = {1552-4825},
  journal      = {AMERICAN JOURNAL OF MEDICAL GENETICS PART A},
  keyword      = {SPONDYLOCARPOTARSAL SYNOSTOSIS,ANOMALIES},
  language     = {eng},
  number       = {10},
  pages        = {2220--2225},
  publisher    = {WILEY-LISS},
  title        = {Mesomelic Dysplasia With Acral Synostoses Verloes-David-Pfeiffer Type: Follow-Up Study Documents Progressive Clinical Course},
  url          = {http://dx.doi.org/10.1002/ajmg.a.32926},
  volume       = {149A},
  year         = {2009},
}

Chicago
Isidor, Bertrand, Antoine Hamel, Frank Plasschaert, Lieve Claus, Jacques-Marie Mercier, Geert Mortier, Juliaan Leroy, Alain Verloes, and Albert David. 2009. “Mesomelic Dysplasia With Acral Synostoses Verloes-David-Pfeiffer Type: Follow-Up Study Documents Progressive Clinical Course.” American Journal of Medical Genetics Part A 149A (10): 2220–2225.
APA
Isidor, B., Hamel, A., Plasschaert, F., Claus, L., Mercier, J.-M., Mortier, G., Leroy, J., et al. (2009). Mesomelic Dysplasia With Acral Synostoses Verloes-David-Pfeiffer Type: Follow-Up Study Documents Progressive Clinical Course. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 149A(10), 2220–2225.
Vancouver
1.
Isidor B, Hamel A, Plasschaert F, Claus L, Mercier J-M, Mortier G, et al. Mesomelic Dysplasia With Acral Synostoses Verloes-David-Pfeiffer Type: Follow-Up Study Documents Progressive Clinical Course. AMERICAN JOURNAL OF MEDICAL GENETICS PART A. HOBOKEN: WILEY-LISS; 2009;149A(10):2220–5.
MLA
Isidor, Bertrand, Antoine Hamel, Frank Plasschaert, et al. “Mesomelic Dysplasia With Acral Synostoses Verloes-David-Pfeiffer Type: Follow-Up Study Documents Progressive Clinical Course.” AMERICAN JOURNAL OF MEDICAL GENETICS PART A 149A.10 (2009): 2220–2225. Print.