Ghent University Academic Bibliography

Advanced

Ehlers-Danlos arthrochalasia type (VIIA-B): expanding the phenotype: from prenatal life through adulthood

M Klaassens, E Reinstein, Y Hilhorst-Hofstee, JJP Schrander, Fransiska Malfait UGent, H Staal, LC ten Have, J Blaauw, HCJ Roggeveen and D Krakow, et al. (2012) CLINICAL GENETICS. 82(2). p.121-130
abstract
The EhlersDanlos syndromes (EDS) form a clinically and genetically heterogeneous group of inherited connective-tissue disorders characterized by joint hypermobility, tissue fragility and skin abnormalities. Six subtypes have been well characterized based on clinical features and molecular genetic abnormalities. The arthrochalasia type EDS (formerly types VIIA and B) is characterized by severe generalized joint hypermobility with multiple dislocations including congenital bilateral dislocation of the hips, muscular hypotonia and distinct dysmorphic features. The diagnosis of the arthrochalasia type EDS is of importance in the neonatal period because of consequences of physical disability in later life. However, the differential diagnosis may be difficult because of overlap with other hypermobility syndromes. In addition, the significant hypotonia may direct the physician toward various neuromuscular diagnoses. As patients become older, the hypotonia decreases and facial features become less distinct. In this report, we describe seven patients at different ages. Timing of diagnosis varied from prenatal life to adult age. The diagnosis of EDS type VII was confirmed by biochemical studies or mutation analysis showing characteristic mutations in COL1A1 and COL1A2. These mutations result in skipping of exon 6, which leads to defective collagen synthesis. For physicians treating patients with EDS type VII, achieving mobility for the patient is the greatest challenge and it may be impossible because of recurrent dislocations of nearly all joints in severe cases.
Please use this url to cite or link to this publication:
author
organization
year
type
journalArticle (original)
publication status
published
subject
keyword
hypermobility, (sub)luxations, Danlos syndrome (EDS), Ehlers, EDS type VII, the arthrochalasia type EDS, I PROCOLLAGEN, OSTEOGENESIS-IMPERFECTA, CLINICAL-FEATURES, SPLICING DEFECT, COLLAGEN, PATIENT, MUTATIONS, EXON-6, COL1A2, GENE
journal title
CLINICAL GENETICS
Clin. Genet.
volume
82
issue
2
pages
121 - 130
Web of Science type
Article
Web of Science id
000306221600004
JCR category
GENETICS & HEREDITY
JCR impact factor
3.944 (2012)
JCR rank
44/161 (2012)
JCR quartile
2 (2012)
ISSN
0009-9163
DOI
10.1111/j.1399-0004.2011.01758.x
language
English
UGent publication?
yes
classification
A1
copyright statement
I have transferred the copyright for this publication to the publisher
id
2973091
handle
http://hdl.handle.net/1854/LU-2973091
date created
2012-08-20 16:27:16
date last changed
2012-09-04 16:48:18
@article{2973091,
  abstract     = {The EhlersDanlos syndromes (EDS) form a clinically and genetically heterogeneous group of inherited connective-tissue disorders characterized by joint hypermobility, tissue fragility and skin abnormalities. Six subtypes have been well characterized based on clinical features and molecular genetic abnormalities. The arthrochalasia type EDS (formerly types VIIA and B) is characterized by severe generalized joint hypermobility with multiple dislocations including congenital bilateral dislocation of the hips, muscular hypotonia and distinct dysmorphic features. The diagnosis of the arthrochalasia type EDS is of importance in the neonatal period because of consequences of physical disability in later life. However, the differential diagnosis may be difficult because of overlap with other hypermobility syndromes. In addition, the significant hypotonia may direct the physician toward various neuromuscular diagnoses. As patients become older, the hypotonia decreases and facial features become less distinct. In this report, we describe seven patients at different ages. Timing of diagnosis varied from prenatal life to adult age. The diagnosis of EDS type VII was confirmed by biochemical studies or mutation analysis showing characteristic mutations in COL1A1 and COL1A2. These mutations result in skipping of exon 6, which leads to defective collagen synthesis. For physicians treating patients with EDS type VII, achieving mobility for the patient is the greatest challenge and it may be impossible because of recurrent dislocations of nearly all joints in severe cases.},
  author       = {Klaassens, M and Reinstein, E and Hilhorst-Hofstee, Y and Schrander, JJP and Malfait, Fransiska and Staal, H and ten Have, LC and Blaauw, J and Roggeveen, HCJ and Krakow, D and De Paepe, Anne and van Steensel, MAM and Pals, G and Graham, JM and Schrander-Stumpel, CTRM},
  issn         = {0009-9163},
  journal      = {CLINICAL GENETICS},
  keyword      = {hypermobility,(sub)luxations,Danlos syndrome (EDS),Ehlers,EDS type VII,the arthrochalasia type EDS,I PROCOLLAGEN,OSTEOGENESIS-IMPERFECTA,CLINICAL-FEATURES,SPLICING DEFECT,COLLAGEN,PATIENT,MUTATIONS,EXON-6,COL1A2,GENE},
  language     = {eng},
  number       = {2},
  pages        = {121--130},
  title        = {Ehlers-Danlos arthrochalasia type (VIIA-B): expanding the phenotype: from prenatal life through adulthood},
  url          = {http://dx.doi.org/10.1111/j.1399-0004.2011.01758.x},
  volume       = {82},
  year         = {2012},
}

Chicago
Klaassens, M, E Reinstein, Y Hilhorst-Hofstee, JJP Schrander, Fransiska Malfait, H Staal, LC ten Have, et al. 2012. “Ehlers-Danlos Arthrochalasia Type (VIIA-B): Expanding the Phenotype: From Prenatal Life Through Adulthood.” Clinical Genetics 82 (2): 121–130.
APA
Klaassens, M., Reinstein, E., Hilhorst-Hofstee, Y., Schrander, J., Malfait, F., Staal, H., ten Have, L., et al. (2012). Ehlers-Danlos arthrochalasia type (VIIA-B): expanding the phenotype: from prenatal life through adulthood. CLINICAL GENETICS, 82(2), 121–130.
Vancouver
1.
Klaassens M, Reinstein E, Hilhorst-Hofstee Y, Schrander J, Malfait F, Staal H, et al. Ehlers-Danlos arthrochalasia type (VIIA-B): expanding the phenotype: from prenatal life through adulthood. CLINICAL GENETICS. 2012;82(2):121–30.
MLA
Klaassens, M, E Reinstein, Y Hilhorst-Hofstee, et al. “Ehlers-Danlos Arthrochalasia Type (VIIA-B): Expanding the Phenotype: From Prenatal Life Through Adulthood.” CLINICAL GENETICS 82.2 (2012): 121–130. Print.