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MUltiple + epiphyseal + dysplasia

Long Guo, Nursel H Elcioglu, Shuji Mizumoto, Zheng Wang, Bilge Noyan, Hatice M Albayrak, Shuhei Yamada, Naomichi Matsumoto, Noriko Miyake, Gen Nishimura, Shiro Ikegawa
Spondylo-epi-metaphyseal dysplasia (SEMD) is a group of inherited skeletal diseases characterized by the anomalies in spine, epiphyses and metaphyses. SEMD is highly heterogeneous and >20 distinct entities have been identified. Here we describe a novel type of SEMD in two unrelated Turkish patients who presented with severe platyspondyly, kyphoscoliosis, pelvic distortion, constriction of the proximal femora and brachydactyly. Although these phenotypes overlap considerably with some known SEMDs, they had a novel causal gene, exostosin-like glycosyltransferase 3 (EXTL3), that encodes a glycosyltransferase involved in the synthesis of heparin and heparan sulfate...
March 23, 2017: Journal of Human Genetics
Hong-Yan Liu, Ji-Fang Xiao, Jia Huang, Yue Wang, Dong Wu, Tao Li, Hong-Dan Wang, Liang-Jie Guo, Qian-Nan Guo, Hai Xiao, Xue Lyu, Zheng-Hong Yu
No abstract text is available yet for this article.
January 5, 2017: Chinese Medical Journal
Michael Wyatt, Jan Weidner, Dominik Pfluger, Martin Beck
BACKGROUND: The definition of osseous instability in radiographic borderline dysplastic hips is difficult. A reliable radiographic tool that aids decision-making-specifically, a tool that might be associated with instability-therefore would be very helpful for this group of patients. QUESTIONS/PURPOSES: (1) To compare a new radiographic measurement, which we call the Femoro-Epiphyseal Acetabular Roof (FEAR) index, with the lateral center-edge angle (LCEA) and acetabular index (AI), with respect to intra- and interobserver reliability; (2) to correlate AI, neck-shaft angle, LCEA, iliocapsularis volume, femoral antetorsion, and FEAR index with the surgical treatment received in stable and unstable borderline dysplastic hips; and (3) to assess whether the FEAR index is associated clinical instability in borderline dysplastic hips...
March 2017: Clinical Orthopaedics and related Research
Seung-Ju Kim, Ashok K Ramanathan, Young-Sik Jeon, Hae-Ryong Song
We reviewed the radiologic and clinical outcomes of hip joints affected by multiple epiphyseal dysplasia in 40 patients. The average patient age was 9.6 years. All patients were followed up for an average of 7.2 years. No patient underwent surgical treatment. The variances of the center-edge angle and femoral head coverage had the greatest tendency to increase with conservative treatment and follow-up (P=0.011 and 0.015, respectively). The acetabular angle and the acetabular depth index at the first visit and the latest follow-up were statistically significantly different (P=0...
July 8, 2016: Journal of Pediatric Orthopedics. Part B
Serafín García-Mata, Angel Hidalgo-Ovejero
Double-layered patella (DLP) is a rare patella-formation abnormality reported in association with multiple epiphyseal dysplasia. DLP is one of the five types of bipartite patella, caused by a coronal septum that divides the patella into anterior and posterior segments. Although the double layer of bone has been reported as complete, it may also manifest as partial, as in our case. A 13-year-old male patient attended A&E after accidentally falling and sustaining a direct injury to his left knee, with pain in the anterior surface of the right patella...
November 2016: Journal of Pediatric Orthopedics. Part B
Jonathan E J Koch, Gideon Mann, Iftach Hetsroni
Multiple epiphyseal dysplasia is a genetically heterogeneous group of diseases causing altered enchondral ossification. It may affect the knee, among other joints, with variable clinical manifestations. In this report, we present a case of a young adult patient with multiple epiphyseal dysplasia, presenting recurrent catching and locking of the knee due to hyperplastic irregular cartilage. Although radiographs and magnetic resonance imaging of his knee were inconclusive with regard to the source of symptoms, arthroscopic examination revealed a flap of irregular and extensive hypertrophic cartilage of the medial femoral condyle that was causing catching during knee motions...
April 2016: Arthroscopy Techniques
Rohan Bansal, Aditya C Pathak, Binoti Sheth, Atul K Patil
INTRODUCTION: Osteopoikilosis or osteopathia condensans disseminata is a rare hereditary autosomal dominant sclerosing bone dysplasia. Patients are usually asymptomatic and the diagnosis is usually made incidentally on radiographs which show presence of symmetric, multiple, well defined, small ovoid areas of increased radiodensity clustered in peri-articular osseous regions with propensity for epiphyseal and metaphyseal involvement. There are no increased risks of pathological fracture in a case of osteopoikilosis and traumatic fracture healing in a case of osteopoikilosis is similar to fracture occurring in other normal patients...
April 2013: Journal of Orthopaedic Case Reports
Jillian Casey, Allan Jenkinson, Alex Magee, Sean Ennis, Ahmad Monavari, Andrew Green, Sally A Lynch, Ellen Crushell, Joanne Hughes
We report a female child from an Irish Traveller family presenting with severe intellectual disability, dysmorphic features, renal anomalies, dental caries and cyclical vomiting. Current health issues include global developmental delay, mild concentric left ventricular hypertrophy, dental malocclusion and caries and a single duplex left kidney. The proband and her mother also have multiple epiphyseal dysplasia. Whole-exome sequencing was performed to identify the underlying genetic cause. DNA from the proband was enriched with the Agilent Sure Select v5 Exon array and sequenced on an Illumina HiSeq...
October 2016: Clinical Dysmorphology
Yuma Sakamoto, Takuaki Yamamoto, Yoshitomo Kajino, Tamon Kabata, Hiroyuki Tsuchiya, Noriko Miyake, Yukihide Iwamoto, Naomichi Matsumoto, Shiro Ikegawa
No abstract text is available yet for this article.
February 23, 2016: Journal of Orthopaedic Science: Official Journal of the Japanese Orthopaedic Association
Goki Kamei, Nobuo Adachi, Masataka Deie, Akio Eguchi, Mitsuo Ochi
No abstract text is available yet for this article.
January 2016: Journal of Orthopaedic Science: Official Journal of the Japanese Orthopaedic Association
Victoire Cladiere-Nassif, Caroline Delaroche, Edwige Pottier, Jean-Marc Feron
We report a case of a 75-year-old woman presenting a hitherto undescribed condition of bilateral second carpal row duplication. She was diagnosed in childhood with both Marfan and Ehlers-Danlos syndromes, with no clear evidence and no further medical follow-up. She presented throughout her life with various articular symptoms, which appeared to be compatible with a diagnosis of multiple epiphyseal dysplasia, and underwent several surgical procedures on her knees and hips. Most recently, she was reporting pain at the base of the fifth metacarpal bone of the left hand...
November 2015: Journal of Wrist Surgery
Yi-Chun Wang, Jing-Shi Liu, Jun-Yi Chen, Sheng-Qi Wu, Gui-Rong Wang, Jing Nie, Shu-Kun Zhang, Qu-Lian Guo, Jun-Ming Luo
Mutations in matrilin-3 are associated with common skeletal diseases, such as hand osteoarthritis (HOA), as well as rare chondrodysplasias, such as multiple epiphyseal dysplasia (MED) and spondyloepimetaphyseal dysplasia (SEMD). In the present study, we constructed the mutations R116W [at the von Willebrand factor, type A (vWFA) domain], T298M [at the first epidermal growth factor (EGF) domain] and C299S (at the first EGF domain), according to the mouse sequence, which are associated with human MED, HOA and SEMD, respectively, by overlap extension PCR and inserted them into an expression vector (pcDNA3...
December 2015: International Journal of Molecular Medicine
Eun Jin Woo, Won-Joon Lee, Kyung-Seok Hu, Jae Joon Hwang
Skeletal dysplasias related to genetic etiologies have rarely been reported for past populations. This report presents the skeletal characteristics of an individual with dwarfism-related skeletal dysplasia from South Korea. To assess abnormal deformities, morphological features, metric data, and computed tomography scans are analyzed. Differential diagnoses include achondroplasia or hypochondroplasia, chondrodysplasia, multiple epiphyseal dysplasia, thalassemia-related hemolytic anemia, and lysosomal storage disease...
2015: PloS One
A Uçar, Y Aydemir, A Doğan, E Tunçez
BACKGROUND: Wolcott-Rallison syndrome is an autosomal recessive, multisystem disorder with onset of diabetes in the neonatal period or early infancy. CASE REPORT: A 9-year-old girl with diabetes and growth failure from 2 months of age presented with ketoacidosis and multiple organ failure. Evaluation for short stature revealed epiphyseal dysplasia. A homozygous mutation in the EIF2AK3 gene confirmed the clinical diagnosis of Wolcott-Rallison syndrome. She was euthyroid...
March 2016: Diabetic Medicine: a Journal of the British Diabetic Association
Ichiro Tonogai, Mitsuhiko Takahashi, Takahiko Tsutsui, Tomohiro Goto, Daisuke Hamada, Naoto Suzue, Tetsuya Matsuura, Natsuo Yasui, Koichi Sairyo
Radioulnar length discrepancy causes pain and decreases function of the wrist, forearm, and elbow. Limb lengthening, which has been used in the treatment of various deformities of the forearm, is necessary to restore balance between the ulna and radius. We treated 5 limbs in 3 patients (2 boys, 1 girl; mean age 9.3 years old) with radioulnar length discrepancy by distraction osteogenesis of either the ulna or radius using external fixators. We dissected the interosseous membrane between the ulna and radius in 3 limbs in 2 cases and did not do so in 2 limbs of 1 case...
2015: Journal of Medical Investigation: JMI
Nuria Garcia Segarra, Diana Ballhausen, Heather Crawford, Matthieu Perreau, Belinda Campos-Xavier, Karin van Spaendonck-Zwarts, Cees Vermeer, Michel Russo, Pierre-Yves Zambelli, Brian Stevenson, Beryl Royer-Bertrand, Carlo Rivolta, Fabio Candotti, Sheila Unger, Francis L Munier, Andrea Superti-Furga, Luisa Bonafé
We report two unrelated patients with a multisystem disease involving liver, eye, immune system, connective tissue, and bone, caused by biallelic mutations in the neuroblastoma amplified sequence (NBAS) gene. Both presented as infants with recurrent episodes triggered by fever with vomiting, dehydration, and elevated transaminases. They had frequent infections, hypogammaglobulinemia, reduced natural killer cells, and the Pelger-Huët anomaly of their granulocytes. Their facial features were similar with a pointed chin and proptosis; loose skin and reduced subcutaneous fat gave them a progeroid appearance...
December 2015: American Journal of Medical Genetics. Part A
Michael D Briggs, Peter A Bell, Katarzyna A Pirog
Genetic skeletal diseases (GSDs) are an extremely diverse and complex group of rare genetic diseases that primarily affect the development and homeostasis of the osseous skeleton. There are more than 450 unique and well-characterised phenotypes that range in severity from relatively mild to severe and lethal forms. Although individually rare, as a group of related genetic diseases, GSDs have an overall prevalence of at least 1 per 4,000 children. Qualitative defects in cartilage structural proteins result in a broad spectrum of both recessive and dominant GSDs...
June 2015: International Journal of Molecular Medicine
Paul A Dawson, Aoife Elliott, Francis G Bowling
Sulphate is an obligate nutrient for healthy growth and development. Sulphate conjugation (sulphonation) of proteoglycans maintains the structure and function of tissues. Sulphonation also regulates the bioactivity of steroids, thyroid hormone, bile acids, catecholamines and cholecystokinin, and detoxifies certain xenobiotics and pharmacological drugs. In adults and children, sulphate is obtained from the diet and from the intracellular metabolism of sulphur-containing amino acids. Dietary sulphate intake can vary greatly and is dependent on the type of food consumed and source of drinking water...
March 2015: Nutrients
Tun Hing Lui
A 17-year-old boy reported left second and third toe pain after axial loading injury to his left foot. Radiographs showed collapse of the second metatarsal heads and epiphysial irregularities of the fifth metatarsal heads and the condyle of the proximal phalanx of the hallux of both feet. The patient was diagnosed to have Thompson and Hamilton type IV Freiberg's disease. He was screened for epiphysial dysplasia of the other sites. He had on and off bilateral hip and knee pain. Radiographs showed bilateral symmetrical epiphysial abnormalities with morphological change as focal concavity in bilateral femoral heads and fragmentation of the patellar articular surface with preservation of the patellofemoral joint space...
February 26, 2015: BMJ Case Reports
Louise H W Kung, M Helen Rajpar, Richard Preziosi, Michael D Briggs, Raymond P Boot-Handford
Mutations in genes encoding cartilage oligomeric matrix protein and matrilin-3 cause a spectrum of chondrodysplasias called multiple epiphyseal dysplasia (MED) and pseudoachondroplasia (PSACH). The majority of these diseases feature classical endoplasmic reticulum (ER) stress and activation of the unfolded protein response (UPR) as a result of misfolding of the mutant protein. However, the importance and the pathological contribution of ER stress in the disease pathogenesis are unknown. The aim of this study was to investigate the generic role of ER stress and the UPR in the pathogenesis of these diseases...
2015: PloS One
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