A Newborn With Complex Skeletal Abnormalities, Joint Contractures, and Bilateral Corneal Clouding With Sclerocornea

A newborn presented to genetics with complex skeletal abnormalities, joint contractures, and bilateral corneal clouding with sclerocornea. The patient survived for 8 months before succumbing to respiratory failure. Exome sequencing revealed a compound heterozygous mutation in theB3GALT6gene. Mutations in this gene have been associated with both Ehlers- Danlos syndrome, progeroid type 2 and spondyloepimetaphyseal dysplasia with joint laxity type 1. These diagnoses encompass the skeletal and joint findings. Our patient expands the phenotype of these diagnoses, as anterior segment eye anomalies have not been described with either syndrome, and he is much more profoundly affected. Interestingly, our patient fits the description of a rare genetic disease referred to as Al-Gazali syndrome, for which the genetic cause is unknown.
Source: Seminars in Pediatric Neurology - Category: Neurology Authors: Source Type: research

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Conclusions: The use of custom-made foot orthoses help in the management of the symptoms by participants. This study could contribute to the foot specialists being considered as an additional member in multidisciplinary teams that are trying to develop an approach for patients with EDS.
Source: International Journal of Environmental Research and Public Health - Category: Environmental Health Authors: Tags: Article Source Type: research
This study aimed to introduce a simple screening method for identifying aortic root dilation in children. The study population consisted of 190 children who were diagnosed with Marfan syndrome or Marfan-like disorders. The aortic root ratio (ARr) was formulated. The value of the ARr was compared in each patient with the results inz-scores, which were obtained using on-line calculators based on the most widespread nomograms. The optimal cut-off value of the ARr was ≥ 18.7. At this cut-off point, the sensitivity of the ARr ranged from 88.3% to 100% and the specificity ranged from 94% to 97.8%. All of the patients i...
Source: Pediatric Cardiology - Category: Cardiology Source Type: research
ConclusionsPatients with EDS may have elevated risk of postoperative ophthalmic surgical complications. It would seem reasonable to systemically and prospectively explore how patients with EDS respond to ophthalmic surgery. Furthermore, it would seem circumspect to ask surgical candidates patients about whether they carry a diagnosis of EDS or have signs and symptoms of EDS prior to surgery.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research
Publication date: Available online 17 January 2020Source: The Journal of Prosthetic DentistryAuthor(s): Francisco X. Azpiazu-Flores, Damian J. Lee, Fengyuang ZhengAbstractEhlers-Danlos syndrome is a rare hereditary disorder of the connective tissue that can have oral manifestations that can complicate the prosthodontic rehabilitation of edentulous patients. Intraoral features such as fragile mucosa, impaired healing, limited intraoral space, and a deep palatal vault can compromise treatment with conventional complete dentures. This clinical report describes the management of a 30-year-old edentulous man with Ehlers-Danlos ...
Source: The Journal of Prosthetic Dentistry - Category: Dentistry Source Type: research
AbstractHypermobile Ehlers-Danlos syndrome (hEDS) and hypermobility spectrum disorders (HSD) are heritable connective tissue disorders associated with pain, activity limitations and participation restrictions. A key feature is reported to be reduced stiffness and increased extensibility and elasticity of connective tissues. Yet diagnosis relies on assessment of joint range of motion, which may be influenced by other factors, and semi-quantitative assessment of forearm skin extensibility. The  objective of this systematic review was to determine if quantitative measures of tissue mechanics can discriminate between hEDS...
Source: Clinical Rheumatology - Category: Rheumatology Source Type: research
Despite well-established clinical associations between Hypermobile Ehlers-Danlos syndrome (hEDS) and postural orthostatic tachycardia syndrome (POTS), the precise prevalence is unknown. We therefore evaluated for hEDS in 91 POTS participants using the 2017 hEDS diagnostic checklist, which has three major criteria: 1) generalized joint hypermobility (Beighton score), 2) systemic features, family history, and 3) absence of exclusion criteria. Overall, 28 out of 91 POTS participants (31%) met clinical criteria for hEDS.
Source: Autonomic Neuroscience: Basic and Clinical - Category: Neuroscience Authors: Source Type: research
Abstract Despite well-established clinical associations between Hypermobile Ehlers-Danlos syndrome (hEDS) and postural orthostatic tachycardia syndrome (POTS), the precise prevalence is unknown. We therefore evaluated for hEDS in 91 POTS participants using the 2017 hEDS diagnostic checklist, which has three major criteria: 1) generalized joint hypermobility (Beighton score), 2) systemic features, family history, and 3) absence of exclusion criteria. Overall, 28 out of 91 POTS participants (31%) met clinical criteria for hEDS. An additional 24% of participants had generalized joint hypermobility without meeting hED...
Source: Autonomic Neuroscience - Category: Neuroscience Authors: Tags: Auton Neurosci Source Type: research
Authors: Riley B Abstract Of the 13 subtypes of Ehlers-Danlos Syndromes (EDSs) identified in the 2017 international classification of EDSs, 12 have a recognized, associated genetic mutation. However, hypermobile EDS (hEDS) currently has no identifiable associated gene. Therefore, patients with hEDS are identified through a set of clinical diagnosis guidelines and criteria, which are meant to differentiate hEDS from other hypermobile joint conditions and other EDSs subtypes. In this article, the authors provide an overview of hEDS symptoms and comborbidities, current treatment options, and the clinical criteria curr...
Source: Journal of the American Osteopathic Association - Category: Complementary Medicine Tags: J Am Osteopath Assoc Source Type: research
uhei Yamada Musculocontractural Ehlers–Danlos Syndome (mcEDS) is a type of EDS caused by biallelic pathogenic variants in the gene for carbohydrate sulfotransferase 14/dermatan 4-O-sulfotransferase 1 (CHST14/D4ST1, mcEDS-CHST14), or in the gene for dermatan sulfate epimerase (DSE, mcEDS-DSE). Thus far, 41 patients from 28 families with mcEDS-CHST14 and five patients from four families with mcEDS-DSE have been described in the literature. Clinical features comprise multisystem congenital malformations and progressive connective tissue fragility-related manifestations. This review outlines recent advances in un...
Source: Genes - Category: Genetics & Stem Cells Authors: Tags: Review Source Type: research
Publication date: Available online 26 December 2019Source: Actas Dermo-Sifiliográficas (English Edition)Author(s): M. Herrero-Moyano, L. Noguera-Morel, A. Torrelo, A. Hernández-Martín
Source: Actas Dermo-Sifiliograficas - Category: Dermatology Source Type: research
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