The alternatively spliced exon of COL5A1 is mutated in autosomal recessive classical Ehlers-Danlos syndrome

2017 ◽  
Vol 93 (4) ◽  
pp. 936-937 ◽  
Author(s):  
F. Alzahrani ◽  
S. Alkeraye ◽  
F.S. Alkuraya
Keyword(s):  
Autosomal Recessive ◽  
Ehlers Danlos Syndrome ◽  
Alternatively Spliced ◽  
Danlos Syndrome

Ehlers-Danlos syndrome

1966 ◽  
Vol 15 (3) ◽  
pp. 273-295
Author(s):  
L. Capotorti ◽  
M. Antonelli
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Clinical Signs ◽  
Long Bones ◽  
Muscular Hypotonia ◽  
Ehlers Danlos Syndrome ◽  
Partial Form ◽  
Danlos Syndrome ◽  
Tubular Bones ◽  
Apparently Healthy

SUMMARYThe Authors describe a pedigree including four certain and two probable cases of «Ehlers-Danlos syndrome ». All the affected subjects were born to consanguineous but apparently healthy parents. Of the three main symptoms of the syndrome, the patients presented hyperelasticity of the skin and hyperlaxity of the joints and of the ligaments, while the signs of cutaneous fragility were absent (« partial form » of E.-D. syndrome). In the first two cases it was possible to find some less common aspects of the E.-D. syndrome, such as ectasia of the trachea and of the main bronchi, anomalies regarding the eyes, the teeth and the nails, muscular hypotonia and hypotrophia, and particularly some skeletal manifestations (bending of the long bones, osteoporosis, anomalies of the methaphysis and epiphysis of the tubular bones, vertebral, thoracic and pelvic deformations).The Authors emphasize the importance of these less common aspects of the E.-D. syndrome, and the similarity between these clinical signs and those found in other « heritable disorders of the connective tissue ».The type of inheritance in this family (autosomal recessive) is discussed, in comparison to the commoner type (autosomal dominant) of inheritance of the E.-D. syndrome.

Ehlers-Danlos syndrome type IV D: an autosomal recessive disorder

2008 ◽  
Vol 25 (3) ◽  
pp. 278-287 ◽  
Author(s):  
Hassan M. B. Sulh ◽  
Beat Steinmann ◽  
Velidi H. Rao ◽  
Gertrud Dudin ◽  
Joseph Abu Zeid ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Syndrome Type ◽  
Ehlers Danlos Syndrome ◽  
Type Iv ◽  
Danlos Syndrome

scholarly journals Spondylocheiro Dysplastic Form of the Ehlers-Danlos Syndrome—An Autosomal-Recessive Entity Caused by Mutations in the Zinc Transporter Gene SLC39A13

2008 ◽  
Vol 82 (6) ◽  
pp. 1290-1305 ◽  
Author(s):  
Cecilia Giunta ◽  
Nursel H. Elçioglu ◽  
Beate Albrecht ◽  
Georg Eich ◽  
Céline Chambaz ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Zinc Transporter ◽  
Transporter Gene ◽  
Ehlers Danlos Syndrome ◽  
Danlos Syndrome

Autosomal recessive cutis laxa type 2A (ARCL2A) mimicking Ehlers-Danlos syndrome by its dermatological manifestations: Report of three affected patients

2014 ◽  
Vol 164 (5) ◽  
pp. 1245-1253 ◽  
Author(s):  
Marie T. Greally ◽  
Neale N. Kalis ◽  
Wahid Agab ◽  
Kasim Ardati ◽  
Sanda Giurgea ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Cutis Laxa ◽  
Ehlers Danlos Syndrome ◽  
Danlos Syndrome

scholarly journals EDS IV (Acrogeria): New Autosomal Dominant and Recessive Types

1980 ◽  
Vol 73 (3) ◽  
pp. 180-186 ◽  
Author(s):  
F M Pope ◽  
A C Nicholls ◽  
P M Jones ◽  
R S Wells ◽  
D Lawrence
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Dominant Form ◽  
Ehlers Danlos Syndrome ◽  
Type Iv ◽  
Autosomal Dominant Form ◽  
Danlos Syndrome ◽  
Biochemical Features

Evidence is presented that type IV of the Ehlers-Danlos syndrome (EDS IV) is genetically variable. A benign autosomal dominant form and two autosomal recessive variants are described with clinical and biochemical features that are distinct from classical acrogeria.

Ehlers-Danlos Syndrome, Kyphoscoliotic Type (Formerly Type VI) as Differential Diagnosis to Neuromuscular Diseases

2016 ◽  
Vol 47 (S 01) ◽  
Author(s):  
M. Schroth ◽  
C. Reihle ◽  
M. Wachowsky ◽  
L. Travan ◽  
M. Buob ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Neuromuscular Diseases ◽  
Ehlers Danlos Syndrome ◽  
Danlos Syndrome
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