ArticleEuropean journal of pediatrics2015
Kyphoscoliotic type of Ehlers-Danlos Syndrome (EDS VIA) in six Egyptian patients presenting with a homogeneous clinical phenotype.
Article in European journal of pediatrics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 25 citations in OpenAlex.
- Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome: a systematic review.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Pooled it
- Kyphoscoliotic Ehlers-Danlos syndrome associated with superior mesenteric artery aneurysm and abdominal aortic rupture: a case report.Frontiers in pediatrics · 2025Article
- Genetic blueprint of congenital muscular dystrophies with brain malformations in Egypt: A report of 11 families.Neurogenetics · 2024Article
- Clinical-Genomic Analysis of 1261 Patients with Ehlers-Danlos Syndrome Outlines an Articulo-Autonomic Gene Network (Entome).Current issues in molecular biology · 2024Article
- A Clinical Qualification Protocol Highlights Overlapping Genomic Influences and Neuro-Autonomic Mechanisms in Ehlers-Danlos and Long COVID-19 Syndromes.Current issues in molecular biology · 2023Article
- Genomics in Egypt: Current Status and Future Aspects.Frontiers in genetics · 2022Review
- Ehlers-Danlos syndromes and their manifestations in the visual system.Frontiers in medicine · 2022Review
- Fe(2)OG: an integrated HMM profile-based web server to predict and analyze putative non-haem iron(II)- and 2-oxoglutarate-dependent dioxygenase function in protein sequences.BMC research notes · 2021Article
- Hypermobile Ehlers-Danlos syndromes: Complex phenotypes, challenging diagnoses, and poorly understood causes.Developmental dynamics : an official publication of the American Association of Anatomists · 2021Review
- The first case report of Kyphoscoliotic Ehlers-Danlos syndrome of chinese origin with a novel PLOD1 gene mutation.BMC medical genetics · 2020Article
- Anterior cervical corpectomy decompression and fusion for cervical kyphosis in a girl with Ehlers-Danlos syndrome: A case report.World journal of clinical cases · 2019Article
- Trends in Treatment of Scheuermann Kyphosis: A Study of 1,070 Cases From 2003 to 2012.Spine deformity · 2019Article
- Congenital cervical kyphosis in an infant with Ehlers-Danlos syndrome.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2018Article
- Roles of PLODs in Collagen Synthesis and Cancer Progression.Frontiers in cell and developmental biology · 2018Review
- The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations.American journal of medical genetics. Part A · 2016Article
- The conundrum of post-traumatic corneal rupture in a patient with Ehlers-Danlos syndrome.Oman journal of ophthalmologyArticle
Corrections and comments
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Authors and funding
8 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
unlabelledThe kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VIA) is a rare recessively inherited connective tissue disorder characterized by bruisable, hyperextensible skin, generalized joint laxity, severe muscular hypotonia at birth and progressive congenital scoliosis or kyphosis. Deficiency of the enzyme lysyl hydroxylase 1 (LH1) due to mutations in PLOD1 results in underhydroxylation of collagen lysyl residues and, hence, in the abnormal formation of collagen cross-links. Here, we report on the clinical, biochemical, and molecular findings in six Egyptian patients from four unrelated families severely affected with EDS VIA. In addition to the frequently reported p.Glu326_Lys585dup, we identified two novel sequence variants p.Gln208* and p.Tyr675*, which lead either to loss of function of LH1 or to its deficiency. All affected children presented with similar clinical features of the disorder, and in addition, several dysmorphic craniofacial features, not yet described in EDS VIA. These were specific for the affected individuals of each family, but absent in their parents and their unaffected siblings.
conclusionOur description of six patients presenting with a homogeneous clinical phenotype and dysmorphic craniofacial features will help pediatricians in the diagnosis of this rare disorder.
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