Ehlers-Danlos syndrome with soft-tissue contractures
, 1992 We report four patients with a form of Ehlers-Danlos syndrome associated with soft-tissue contractures from birth and skin hyperalgesia. In early infancy, these cases were thought to be forms of arthrogryposis multiplex congenita, Larsen's syndrome or ...
S Oshita +4 more
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Human Mutation, Volume 2024, Issue 1, 2024.Although they are rare in the population, rare neurodevelopmental disorders (RNDDs) constitute a significant portion of all rare diseases. While advancements in sequencing technologies led to improvements in diagnosing and managing rare neurodevelopmental diseases, accurate pathogenicity classification of the identified variants is still challenging ...
Ece Sönmezler +6 more
wiley +1 more source
Pregnancy outcome in joint hypermobility syndrome and Ehlers–Danlos syndrome
, 2017 IntroductionAn increased risk of preterm birth in women with joint hypermobility syndrome or Ehlers-Danlos syndrome is suspected. Material and methodsIn this nationwide cohort study from 1997 through 2011, women with either joint hypermobility syndrome ...
Jonas F. Ludvigsson +12 more
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Kyphoscoliotic Ehlers–Danlos syndrome: case reports and literature review
Neuromuscular DiseasesIn a number of Ehlers–Danlos syndrome types kyphoscoliotic Ehlers–Danlos syndrome (kEDS) is one of rare and most severe. It includes two autosomal recessive forms: kEDS-1 (gene PLOD1) and kEDS-2 (gene FKBP14). In addition to common in Ehlers–Danlos syndrome joint hypermobility, skin hyperextensibility, and tissue fragility, kEDS is characterized by ...
G. E. Rudenskaya +10 more
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Flow Chart of the functional bowel disorders among the population of Ehlers-Danlos syndrome.
, 2013 Flow Chart of the functional bowel disorders among the population of Ehlers-Danlos syndrome.
Benoît Coffin (488926) +6 more
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Vascular Ehlers-Danlos syndrome with distinct histopathologic features
, 2021 Ehlers-Danlos syndrome is a connective tissue disorders that presents with heterogeneous manifestations depending on the involved genes. Vascular Ehlers-Danlos syndrome (vEDS), also known as Ehlers-Danlos syndrome type IV, is caused by a heterozygous ...
Jang, Se Jin +5 more
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Hypermobile Ehlers–Danlos syndrome and pregnancy
, 2018 Ehlers–Danlos syndromes are a clinically and genetically heterogeneous group of rare inherited connective tissue disorders. Hypermobile Ehlers–Danlos syndrome is one of the common types and not infrequently encountered in pregnancy.
Akilandeswari Karthikeyan +1 more
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GIQLI score (individual spot and means) according to the presence of Ehlers-Danlos syndrome.
, 2013 GIQLI score (individual spot and means) according to the presence of Ehlers-Danlos syndrome.
Benoît Coffin (488926) +6 more
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Az Ehlers–Danlos-szindrómák korszerű osztályozása és multidiszciplináris tünettana = Up-to-date classification and multidisciplinary symptoms of Ehlers–Danlos syndromes [PDF]
, 2019 Absztrakt: A szerzők a ritka, örökletes kötőszöveti betegségek közé tartozó Ehlers–Danlos-szindrómacsoportra vonatkozó korszerű, nemzetközi osztályozáson alapuló klinikai ismereteket foglalják ...
Márta Medvecz +9 more
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A case of coexistence of Marfan and Ehlers-Danlos syndromes in a 15-year-old boy
, 2014 Marfan syndrome (MS) and Ehlers-Danlos syndrome (EDS) are examples of two rare genetic diseases characterized by disturbances in the structure of collagen.
Agnieszka Gazda +2 more
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