The Ehlers–Danlos syndromes, rare types

  title={The Ehlers–Danlos syndromes, rare types},
  author={Angela F Brady and Serwet Demirdas and Sylvie Fournel‐Gigleux and Neeti Ghali and Cecilia Giunta and Ines Kapferer-Seebacher and Tomoki Kosho and Roberto Mendoza-Londono and Michael Pope and Marianne Rohrbach and Tim Van Damme and Anthony Vandersteen and Caroline van Mourik and Nicol C. Voermans and Johannes Zschocke and Fransiska Malfait},
  journal={American Journal of Medical Genetics Part C: Seminars in Medical Genetics},
  pages={115 - 70}
  • A. BradyS. Demirdas F. Malfait
  • Published 1 March 2017
  • Medicine, Biology
  • American Journal of Medical Genetics Part C: Seminars in Medical Genetics
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… 

The Ehlers–Danlos syndromes

The epidemiology, mechanisms, diagnosis and treatment of these syndromes are discussed, with common features including joint hypermobility, soft and hyperextensible skin, abnormal wound healing and easy bruising.

Classification, nosology and diagnostics of Ehlers-Danlos syndrome

  • B. Hamel
  • Medicine
    Journal of Biomedicine and Translational Research
  • 2019
The frequent types of EDS can be diagnosed after careful history taking and clinical examination, but for definite diagnosis molecular confirmation is needed in all types.

The Ehlers–Danlos Syndromes against the Backdrop of Inborn Errors of Metabolism

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Clinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due to a Novel TNXB Variant

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The Ehlers-Danlos syndrome: on beyond collagens.

The molecular defects described to date are not sufficient to explain disease in many EDS patients, including those with the most common classical and hypermobility types, and the search for EDS genes recently has expanded beyond the collagens and collagen-modifying genes.

Two patients with Ehlers–Danlos syndrome type VIII with unexpected hoarseness

Type VIII EDS is a very rare subtype, characterized by severe, early‐onset periodontitis, skin fragility and abnormal scarring, and may be due to defects in the collagen of the vocal ligament.

Recurrent neuropathy associated with Ehlers–Danlos syndrome

A 30-year-old female with the hypermobility type of EDS presented with acute onset of paresis and sensory disturbances of her left leg, and subsequently experienced an axillary neuropathy, brachial plexopathy and sciatic neuropathy.

Early‐onset osteoarthritis in Ehlers–Danlos syndrome type VIII

The skeletal manifestations and complications in a proposita of a previously unreported three generation kindred with EDS type VIII are explored, especially in regard to the skeletal phenotype.

Clinical phenotypes and molecular characterisation of three patients with Ehlers-Danlos syndrome type VII

Editor—The Ehlers-Danlos syndrome (EDS) is a diverse group of heritable connective tissue disorders whose primary clinical features include soft, hyperextensible skin, dystrophic scarring, easy

Neuromuscular involvement in various types of Ehlers–Danlos syndrome

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