Ehlers-Danlos syndrome type VII: phenotype and genotype

Lehmann, H; Mundlos, Stefan; Winterpacht, Andreas; Brenner, RE; Zabel, Bernhard; Müller, Peter

doi:10.1007/bf00371566

Cited by 21 publications

(4 citation statements)

References 15 publications

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“…At present, 49 patients from 36 families have been published (Table S1). The ages at the publication ranged from 2.5 months to 46 years (n = 35; Median age, 7.5 years of age) [Steinmann et al, ; Eyre et al, ; Cole et al, ; Viljoen et al, ; D'Alessio et al, ; Nicholls et al, ; Vasan et al, ; Chiodo et al, ; Pope et al, ; Carr et al, ; Ho et al, ; Lehmann et al, ; Byers et al, ; Giunta et al, ; Hudgins et al, ; Nicholls et al, ; Whitaker et al, ; Giovannucci Uzielli et al, ; Klaassens et al, ; Giunta and Steinmann, ; Hatamochi et al, ].…”

Section: Arthrochalasia Eds (Aeds)mentioning

confidence: 99%

The Ehlers–Danlos syndromes, rare types

Brady¹,

Demirdas²,

Fournel‐Gigleux³

et al. 2017

American J of Med Genetics Pt C

181

288

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The Ehlers–Danlos syndromes comprise a clinically and genetically heterogeneous group of heritable connective tissue disorders, which are characterized by joint hypermobility, skin hyperextensibility, and tissue friability. In the Villefranche Nosology, six subtypes were recognized: The classical, hypermobile, vascular, kyphoscoliotic, arthrochalasis, and dermatosparaxis subtypes of EDS. Except for the hypermobile subtype, defects had been identified in fibrillar collagens or in collagen‐modifying enzymes. Since 1997, a whole spectrum of novel, clinically overlapping, rare EDS‐variants have been delineated and genetic defects have been identified in an array of other extracellular matrix genes. Advances in molecular testing have made it possible to now identify the causative mutation for many patients presenting these phenotypes. The aim of this literature review is to summarize the current knowledge on the rare EDS subtypes and highlight areas for future research. © 2017 Wiley Periodicals, Inc.

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Section: Arthrochalasia Eds (Aeds)mentioning

confidence: 99%

The Ehlers–Danlos syndromes, rare types

Brady¹,

Demirdas²,

Fournel‐Gigleux³

et al. 2017

American J of Med Genetics Pt C

181

288

View full text Add to dashboard Cite

show abstract

“…Arthrochalasia EDS is a rare disorder with an unknown prevalence (Brady et al, ). To date, 42 patients with aEDS from 37 families have been published (Byers et al, ; Carr et al, ; Chiodo, Hockey, & Cole, ; Cole, Chan, Chambers, Walker, & Bateman, ; Cole, Evans, & Sillence, ; D'Alessio et al, ; Eyre, Shapiro, & Aldridge, ; Giovannucci Uzielli et al, ; C Giunta & Steinmann, ; C Giunta, Superti‐Furga, Spranger, Cole, & Steinmann, ; Hass & Hass, ; Hatamochi, Hamada, Yoshino, & Hashimoto, ; Ho et al, ; Hudgins, Drummond‐Borg, Atkinson, Schwarze, & Byers, ; Klaassens et al, ; Lehmann et al, ; Melis et al, ; a C. Nicholls et al, ; A. C. Nicholls et al, ; Pope et al, ; Vasan et al, ; Viljoen, Goldblatt, Thompson, & Beighton, ; Watson et al, ; D. Weil et al, , Weil et al, ; Dominique Weil, D'Alessio, Ramirez, & Eyre, ; Whitaker et al, ). Here we describe 12 individuals with aEDS from ten families, including follow‐up data on six patients and data on six newly diagnosed individuals in order to expand knowledge about clinical features, molecular diagnosis, and management.…”

Section: Introductionmentioning

confidence: 99%

Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers‐Danlos syndrome

Ayoub

Ghali

Angwin

et al. 2020

American J of Med Genetics Pt A

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Arthrochalasia Ehlers-Danlos syndrome (aEDS) is a rare autosomal dominant connective tissue disorder that is characterized by congenital bilateral hip dislocations, severe generalized joint hypermobility, recurrent joint (sub)luxations, and skin hyperextensibility. To date, 42 patients with aEDS have been published. We report 12 patients with aEDS from 10 families with 6 unpublished individuals and follow-up data on 6 adult patients.The clinical features are largely comparable with patients reported in the literature. Most (n = 10) patients had variants leading to (partial) loss of exon 6 of the COL1A1 or COL1A2 genes. One patient did not have a previously reported likely pathogenic COL1A1 variant. Data regarding management were retrieved. Hip surgery was performed in 5/12 patients and 3/12 patients underwent spinal surgery. As much as 4/12 patients were wheelchair-bound or unable to walk unaided. Fractures were present in 9/12 individuals with 1 patient requiring bisphosphonate treatment. Echocardiograms were performed in 10 patients and 2 individuals showed an abnormality likely unrelated to aEDS. One patient gave birth to two affected children and went through preterm labor requiring medication but had no additional complications. Of the eight adults in our cohort, the majority entered a career. Our data point toward a genotype-phenotype relationship with individuals with aEDS due to pathogenic COL1A1 variants causing complete or partial loss of exon 6 being more severely affected regarding musculoskeletal features. There is a significant lack of knowledge with regard to management of aEDS, particularly in adulthood. As such, systematic follow-up and multidisciplinary treatment is essential. K E Y W O R D S arthrochalasia EDS, COL1A1, COL1A2, congenital hip dislocation, Ehlers-Danlos syndrome (EDS)

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“…Hüftsubluxationen und -luxationen, die speziell beim Arthrochalasie-Typ des EDS beobachtet werden [63], haben oft komplizierte Verläufe mit erneuter Dezentrierung des Hüftkopfes und Reluxation. Betroffene Kinder müssen engmaschig kontrolliert werden [71].…”

Section: Caveunclassified

Angeborene Bindegewebserkrankungen mit skelettalem Phänotyp

Brenner¹,

Taurman²

2017

Orthopädie und Unfallchirurgie up2date

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Ehlers-Danlos syndrome type VII: phenotype and genotype

Cited by 21 publications

References 15 publications

The Ehlers–Danlos syndromes, rare types

The Ehlers–Danlos syndromes, rare types

Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers‐Danlos syndrome

Angeborene Bindegewebserkrankungen mit skelettalem Phänotyp

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