Results 121 to 130 of about 1,246,443 (148)
The conundrum of post-traumatic corneal rupture in a patient with Ehlers-Danlos syndrome.
Oman J OphthalmolJain P, Gupta I, Hariani A, Reddy G.
europepmc +1 more source
Stroke in Ehlers-Danlos Syndrome Kyphoscoliotic Type: Dissection or Vasculitis?
Pediatric Neurology, 2017 Patients with the kyphoscoliotic type of Ehlers-Danlos syndrome have an increased risk of vascular complications such as aortic dissection and perforation. Cerebral ischemia has only rarely been documented.This 13-year-old girl with the kyphoscoliotic type of Ehlers-Danlos syndrome experienced a large right middle cerebral artery distribution ...
Marianne Rohrbach +2 more
exaly +6 more sources
Neuromuscular Disorders, 2008 The kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI) (OMIM 225400) is an inherited connective tissue disorder characterized by hypotonia and kyphoscoliosis at birth, joint hypermobility, and skin hyperelasticity and fragility. Biochemically, it is characterized by a deficiency of collagen lysyl hydroxylase (EC 1.14.11.4) due to mutations in PLOD1.
Uluç Yiş +2 more
exaly +7 more sources
Myopathy and Polyneuropathy in an Adolescent With the Kyphoscoliotic Type of Ehlers–Danlos Syndrome
American Journal of Medical Genetics, Part A, 2009 Contains fulltext : 80929.pdf (Publisher’s version ) (Open Access)
Martin Lammens +2 more
exaly +5 more sources
A Case of Ehlers-Danlos Syndrome Type VIA With a Novel PLOD1 Gene Mutation
Pediatric Neurology, 2014 BACKGROUND: The kyphoscoliotic type of the Ehlers-Danlos syndrome is an autosomal recessive connective tissue disorder characterized by soft extensible skin, laxity of joints, severe muscle hypotonia at birth, and kyphoscoliosis. PATIENT: We describe a 3-
Gökay Bozkurt, Ayse Tosun
exaly +2 more sources
Some of the next articles are maybe not open access.
European Journal of Medical Genetics, 2021
The kyphoscoliotic Ehlers-Danlos syndrome (kEDS) is a rare autosomal recessive connective tissue disorder characterized by hyperextensible skin and joints, kyphoscoliosis, and severe muscle hypotonia at birth. Causal variants have been identified in PLOD1 resulting in lysyl hydroxylase deficiency responsible for kEDS. However, the detailed phenotype of
Yingchun, Zhao +5 more
openaire +2 more sources
The kyphoscoliotic Ehlers-Danlos syndrome (kEDS) is a rare autosomal recessive connective tissue disorder characterized by hyperextensible skin and joints, kyphoscoliosis, and severe muscle hypotonia at birth. Causal variants have been identified in PLOD1 resulting in lysyl hydroxylase deficiency responsible for kEDS. However, the detailed phenotype of
Yingchun, Zhao +5 more
openaire +2 more sources
Absence of the Inferior Labial and Lingual Frenula in Ehlers-Danlos Syndrome
Lancet, The, 2001 The diagnosis of Ehlers-Danlos syndrome Is based on distinctive phenotypical characteristics such as hyperelastic skin and hypermobile joints. To date, no congenital physical markers exist for Identifying patients with Ehlers-Danlos syndrome.
Paolo Toti +2 more
exaly +2 more sources
Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers–Danlos syndrome (EDS VIA)
American Journal of Medical Genetics Part A, 2005AbstractWe report on seven patients affected with Nevo syndrome, a rare, autosomal recessive disorder characterized by increased perinatal length, kyphosis, muscular hypotonia, and joint laxity. Since its first description by Nevo et al. [1974], only a few cases have been reported.
Giunta, C. +5 more
openaire +3 more sources