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scoliosis ehlers danlos

Maggie S Eppelheimer, James R Houston, Jayapalli R Bapuraj, Richard Labuda, Dorothy M Loth, Audrey M Braun, Natalie J Allen, Soroush Heidari Pahlavian, Dipankar Biswas, Aintzane Urbizu, Bryn A Martin, Cormac O Maher, Philip A Allen, Francis Loth
Purpose: Researchers have sought to better understand Chiari type I malformation (CMI) through morphometric measurements beyond tonsillar position (TP). Soft tissue and bone structures within the brain and craniocervical junction have been shown to be different for CMI patients compared to healthy controls. Yet, several morphological characteristics have not been consistently associated with CMI. CMI is also associated with different prevalent conditions (PCs) such as syringomyelia, pseudotumor, Ehlers-Danlos syndrome (EDS), scoliosis, and craniocervical instability...
2018: Frontiers in Neuroanatomy
Fleur S van Dijk, Grazia M S Mancini, Alessandra Maugeri, Jan M Cobben
We report two children with Ehlers Danlos, kyphoscoliotic type confirmed by Lysyl Hydroxylase 1 deficiency due to bi-allelic PLOD1 mutations (kEDS-PLOD1) who were initially thought to have either a diagnosis of classical EDS (cEDS) or a neuromuscular disorder due to absence of (congenital) scoliosis. As the two patients reported here illustrate, patients with kEDS-PLOD1 do not always have a kyphoscoliosis present at birth or in the first year of life, neither do they necessarily develop kyphoscoliosis later in infancy...
October 2017: European Journal of Medical Genetics
Rie Aoki, Kittipong Srivatanakul, Takahiro Osada, Kazuko Hotta, Takatoshi Sorimachi, Mitsunori Matsumae, Hiroko Morisaki
Background Loeys-Dietz syndrome (LDS) is a recently recognized autosomal dominant connective tissue disease. The manifestations of LDS include vascular tortuosity, scoliosis, craniosynostosis, aneurysm and aortic dissections. Clinical presentation A 35-year-old woman treated with Stanford type B aortic dissection and breast cancer was referred to us for Borden type II dural arteriovenous fistula (dAVF) draining to the vein of Galen, involving the midline of tentorium cerebelli. The dAVF was treated successfully by combined transarterial and transvenous embolization...
April 2017: Interventional Neuroradiology
Courtney M Stern, Michael J Pepin, Joan M Stoler, Dennis E Kramer, Samantha A Spencer, Cynthia J Stein
OBJECTIVE: To describe musculoskeletal conditions in children with Ehlers-Danlos syndrome (EDS). STUDY DESIGN: A retrospective medical record review was performed, which evaluated 205 patients with EDS (ages 6-19 years) seen in sports medicine or orthopedic clinic at a large pediatric hospital over a 5-year period. RESULTS: Female (n = 147) and male (n = 57) patients were identified (mean age 12.7 years). The most common EDS subtype (55...
February 2017: Journal of Pediatrics
Charles M Chan, Hasani W Swindell, Hiroko Matsumoto, Howard Y Park, Joshua E Hyman, Michael G Vitale, David P Roye, Benjamin D Roye
STUDY DESIGN: This study determines the rate of change in the scoliosis surgery plan in cases presented in preoperative indications conference. OBJECTIVES: To determine the effect of preoperative indications conference on the plan of surgery and to identify characteristics that increased the likelihood of change. SUMMARY OF BACKGROUND DATA: Preoperative indications conferences are used as a teaching and planning tool. Levels of fusion, construct options, and necessity for osteotomies are often debated in the planning of scoliosis surgery...
January 2016: Spine Deformity
J-M Mazzella, M Frank, P Collignon, M Langeois, A Legrand, X Jeunemaitre, J Albuisson
Syndromic thoracic aortic aneurysm and dissection (TAAD) can suggest Marfan, vascular Ehlers-Danlos or Loeys-Dietz (LDS) syndromes. Several of the TGFβ-pathway-related genes predispose to different types of LDS. Heterozygous loss-of-function variations in TGFβ2 have been shown to be responsible for a novel form of syndromic TAAD associated with an impairment of the mitral valve and cerebrovascular disease called Loeys-Dietz syndrome type 4 (LDS4). We report the clinical characterization of a LDS4 French family with sudden deaths and diffuse vascular lesions, caused by a frameshift mutation in TGFβ2 gene: c...
March 2017: Clinical Genetics
Gabe Haller, David M Alvarado, Marcia C Willing, Alan C Braverman, Keith H Bridwell, Michael Kelly, Lawrence G Lenke, Scott J Luhmann, Christina A Gurnett, Matthew B Dobbs
BACKGROUND: Scoliosis is a feature of several genetic disorders that are also associated with aortic aneurysm, including Marfan syndrome, Loeys-Dietz syndrome, and type-IV Ehlers-Danlos syndrome. Life-threatening complications of aortic aneurysm can be decreased through early diagnosis. Genetic screening for mutations in populations at risk, such as patients with adolescent idiopathic scoliosis, may improve recognition of these disorders. METHODS: The coding regions of five clinically actionable genes associated with scoliosis (COL3A1, FBN1, TGFBR1, TGFBR2, and SMAD3) and aortic aneurysm were sequenced in 343 adolescent idiopathic scoliosis cases...
September 2, 2015: Journal of Bone and Joint Surgery. American Volume
Benjamin J Levy, Jacob F Schulz, Eric D Fornari, Adam L Wollowick
BACKGROUND: There are a number of syndromes that have historically been associated with scoliosis e.g.: Marfan, Down, and Neurofibromatosis. These syndromes have been grouped together as one etiology of scoliosis, known as syndromic scoliosis. While multiple studies indicate that these patients are at high risk for perioperative complications, there is a paucity of literature regarding the collective complication rates and surgical needs of this population. METHODS: PubMed and Embase databases were searched for literature encompassing the surgical complications associated with the surgical management of patients undergoing correction of scoliosis in the syndromic scoliosis population...
2015: Scoliosis
Xianlong Shi, Yanqin Lu, Yanzhou Wang, Yu-Ang Zhang, Yuanwei Teng, Wanshui Han, Zhenzhong Han, Tianyou Li, Mei Chen, Junlong Liu, Fengling Fang, Conghui Dou, Xiuzhi Ren, Jinxiang Han
Osteogenesis imperfecta (OI) is an inheritable connective tissue disorder with a broad clinical heterozygosis, which can be complicated by other connective tissue disorders like Ehlers-Danlos syndrome (EDS). OI/EDS are rarely documented. Most OI/EDS mutations are located in the N-anchor region of type I procollagen and predominated by glycine substitution. We identified a c.3521C>T (p.A1174V) heterozygous mutation in COL1A1 gene in a four-generation pedigree with proposed mild OI/EDS phenotype. The affected individuals had blue sclera and dentinogenesis imperfecta (DI) was uniformly absent...
February 2015: Intractable & Rare Diseases Research
Ebtesam M Abdalla, Marianne Rohrbach, Céline Bürer, Marius Kraenzlin, Hazem El-Tayeby, Mervat F Elbelbesy, Amira Nabil, Cecilia Giunta
UNLABELLED: The 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...
January 2015: European Journal of Pediatrics
Albert Busch, Julia Suellner, Friedrich Anger, Michael Meir, Ralph Kickuth, Udo Lorenz, René Wildenauer
No abstract text is available yet for this article.
May 2014: VASA. Zeitschrift Für Gefässkrankheiten
Atsushi Hatamochi, Takahiro Hamada, Makoto Yoshino, Takashi Hashimoto
This is the first report for a Japanese case of arthrochalasia type of Ehlers-Danlos syndrome (EDS). A 46-year-old woman consulted us for joint hypermobility and skin hyperextensibility that had been present soon after birth. There was no family history of a similar disease. She was diagnosed as having bilateral congenital hip dislocation and bilateral habitual shoulder dislocation at her childhood. Her skin was velvety, doughy and hyperextensible. She showed hypermobility of the joints of the hands and feet and generalized joint laxity, with no evidence of scoliosis...
March 15, 2014: Gene
Chih-Ping Chen, Shuan-Pei Lin, Yu-Peng Liu, Schu-Rern Chern, Peih-Shan Wu, Jun-Wei Su, Yu-Ting Chen, Chen-Chi Lee, Wayseen Wang
We present a 19-year-old male with laxity of skin and joints, sparse scalp hair, facial dysmorphism, epilepsy, multiple exostoses, scoliosis, gastroesophageal reflux, cardiovascular defects, and an 8q23.3-q24.22 deletion detected by array comparative genomic hybridization. The patient was previously misdiagnosed as having Ehlers-Danlos syndrome. However, his clinical findings are in fact correlated with trichorhinophalangeal syndrome type II/Langer-Giedion syndrome and Cornelia de Lange syndrome-4. We discuss the genotype-phenotype correlation and the consequence of haploinsufficiency of TRPS1, RAD21, EXT1 and KCNQ3 in this case...
October 15, 2013: Gene
Brien Michael Rabenhorst, Sumeet Garg, J Anthony Herring
PURPOSE: There is a paucity of literature describing posterior spinal fusion (PSF) in the Ehlers-Danlos syndrome (EDS) patient. The vast majority of these studies diagnosed EDS clinically. The purpose of this study is to discuss the management and complications of EDS patients with scoliosis treated with PSF at a single institution. METHODS: Clinical and radiographic data are presented describing six patients who had PSF for EDS. The diagnoses were confirmed by a geneticist...
June 2012: Journal of Children's Orthopaedics
Eric D Shirley, Marlene Demaio, Joanne Bodurtha
Ehlers-Danlos syndrome is a heterogeneous connective tissue condition characterized by varying degrees of skin hyperextensibility, joint hypermobility, and vascular fragility. Joint dislocations, musculoskeletal pain, atrophic scars, easy bleeding, vessel/viscera rupture, severe scoliosis, and obstetric complications may occur. These manifestations are secondary to abnormal collagen, with specific molecular defects in types I, III, and V collagen; they may also be related to tenascin-X, which has been identified in some patients...
September 2012: Sports Health
Kate Armon, Peter Bale
Heritable connective tissue diseases are rare. Each disorder estimated at 1-10 per 100,000. However, as a group they are prevalent enough to constitute an important diagnostic challenge. Connective tissue disorders most significantly affect three systems: musculoskeletal, ocular and cardiovascular. The cardinal feature of the majority of these disorders is ligamentous laxity, or joint hypermobility. The joints show an increased range of movement, and the child may present with arthralgias, effusions and an increased risk of joint or soft tissue injury...
June 2012: Practitioner
Nobuko Ohashi, Kenta Furutani, Hideaki Ishii, Hiroshi Baba
A 26-year-old woman with Ehlers-Danlos syndrome (EDS) underwent posterior spinal fusion with instrumentation for scoliosis. General anesthesia was maintained using propofol and remifentanil. The procedure was performed examining the motor evoked potential (MEP) and somatosensory evoked potential (SSEP) of the lower extremities with the patient placed in the prone position. The procedure was completed successfully without major cardiovascular or respiratory complications. The duration of anesthesia was 821 min...
June 2012: Masui. the Japanese Journal of Anesthesiology
Esra Kiliç, Yasemin Alanay, Eda Utine, Burçe Ozgen-Mocan, Peter N Robinson, Koray Boduroğlu
We report a 13-year-old girl with Loeys-Dietz syndrome (LDS) caused by a known transforming growth factor beta receptor II (TGFBR2) gene mutation, who developed aortic root dilatation and saccular aneurysm of the internal carotid artery. LDS is a rare, autosomal dominant aortic aneurysm syndrome with multisystem involvement. The disease is typically characterized by the triad of arterial tortuosity and aneurysms, hypertelorism, and bifid uvula/cleft palate. The characteristic LDS symptoms observed in the reported case included craniofacial dysmorphism (hypertelorism, cleft palate, blue sclerae, malar hypoplasia, retrognathia), skeletal deformities (scoliosis, talipes equinovarus, pectus deformity, arachnodactyly), congenital heart defects (patent ductus arteriosus, PDA), and arterial tortuosity and aneurysms...
March 2012: Turkish Journal of Pediatrics
Francesca Tocchioni, Marco Ghionzoli, Guglielmina Pepe, Antonio Messineo
INTRODUCTION: Severe pectus excavatum (PE) is a deep chest wall deformity that generates both a cosmetic damage and a cardiac/respiratory function impairment. Excluding the scarce reports on Marfan's syndrome (MFS) and Ehlers-Danlos's syndrome (EDS), few studies have examined the relation between severe PE and connective tissue disorders. The aim of this study is to verify the clinical significance of such correlation. SUBJECTS AND METHODS: Ninety-two consecutive patients, of whom 79 were males, between 6 and 34 years old, classified as having severe PE, were seen at our institution from June 2005 to September 2010...
June 2012: Journal of Laparoendoscopic & Advanced Surgical Techniques. Part A
Matthias Baumann, Cecilia Giunta, Birgit Krabichler, Franz Rüschendorf, Nicoletta Zoppi, Marina Colombi, Reginald E Bittner, Susana Quijano-Roy, Francesco Muntoni, Sebahattin Cirak, Gudrun Schreiber, Yaqun Zou, Ying Hu, Norma Beatriz Romero, Robert Yves Carlier, Albert Amberger, Andrea Deutschmann, Volker Straub, Marianne Rohrbach, Beat Steinmann, Kevin Rostásy, Daniela Karall, Carsten G Bönnemann, Johannes Zschocke, Christine Fauth
We report on an autosomal-recessive variant of Ehlers-Danlos syndrome (EDS) characterized by severe muscle hypotonia at birth, progressive scoliosis, joint hypermobility, hyperelastic skin, myopathy, sensorineural hearing impairment, and normal pyridinoline excretion in urine. Clinically, the disorder shares many features with the kyphoscoliotic type of EDS (EDS VIA) and Ullrich congenital muscular dystrophy. Linkage analysis in a large Tyrolean kindred identified a homozygous frameshift mutation in FKBP14 in two affected individuals...
February 10, 2012: American Journal of Human Genetics
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