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https://www.readbyqxmd.com/read/29724173/dual-novel-mutations-in-slc26a2-in-two-siblings-with-multiple-epiphyseal-dysplasia-4-from-a-chinese-family-a-case-report
#1
Taifeng Zhou, Yongqian Wang, Hang Zhou, Zhiheng Liao, Bo Gao, Deying Su, Shuhui Zheng, Caixia Xu, Peiqiang Su
BACKGROUND: Multiple epiphyseal dysplasia (MED) is a heterogeneous genetic condition characterized by variable phenotypes, such as short stature (mild to moderate), joint deformities, abnormal gait, scoliosis, and brachydactyly. Recessive mutations in the SLC26A2 gene cause a phenotype of multiple epiphyseal dysplasia-4 (MED-4). In the present study, we identified novel compound heterozygous mutations in the SLC26A2 gene in a Chinese family with two affected sibs with MED-4. CASE PRESENTATION: Radiographs revealed hip dysplasia, brachydactyly and scoliosis in patient 1...
May 3, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29572747/severe-nasomaxillary-hypoplasia-binder-phenotype-on-prenatal-us-mri-an-important-marker-for-the-prenatal-diagnosis-of-chondrodysplasia-punctata
#2
Anna R Blask, Eva I Rubio, Kimberly A Chapman, Anne K Lawrence, Dorothy I Bulas
BACKGROUND: Chondrodysplasia punctata is a skeletal dysplasia caused by a diverse spectrum of etiologies, with outcomes ranging from antenatal demise to a normal life span. Prenatal detection can be challenging. OBJECTIVE: To review a series of cases of chondrodysplasia punctata associated with nasomaxillary hypoplasia, known as the Binder phenotype, and to highlight prenatal ultrasound and MRI findings, as well as postnatal MRI and radiographic findings. MATERIALS AND METHODS: We retrospectively reviewed ultrasound, MRI and radiographic imaging findings in postnatally confirmed cases of chondrodysplasia punctata from 2001 to 2017...
March 23, 2018: Pediatric Radiology
https://www.readbyqxmd.com/read/29530484/cartilage-oligomeric-matrix-protein-compopathies-and-beyond
#3
REVIEW
Karen L Posey, Francoise Coustry, Jacqueline T Hecht
Cartilage oligomeric matrix protein (COMP) is a large pentameric glycoprotein that interacts with multiple extracellular matrix proteins in cartilage and other tissues. While, COMP is known to play a role in collagen secretion and fibrillogenesis, chondrocyte proliferation and mechanical strength of tendons, the complete range of COMP functions remains to be defined. COMPopathies describe pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED), two skeletal dysplasias caused by autosomal dominant COMP mutations...
March 9, 2018: Matrix Biology: Journal of the International Society for Matrix Biology
https://www.readbyqxmd.com/read/29415765/double-non-contiguous-fractures-in-a-patient-with-spondylo-epiphyseal-dysplasia-with-spinal-ankylosis-treated-with-open-and-percutaneous-spinal-fixation-technique-a-case-report
#4
Takahiro Ushijima, Kenichi Kawaguchi, Tadashi Matsumoto, Masaki Takagi, Tatsuro Kondoh, Gen Nishimura, Aritoshi Iida, Shiro Ikegawa, Nobuhiko Haga, Go Kato
BACKGROUND: Patients with ankylosing spines are susceptible to developing spinal fractures even with minor trauma and can develop early or late neurological injuries. These fractures require early and aggressive surgical management to enable spinal stability and/or neural decompression. Being highly unstable by nature, they require relatively long segment instrumentation and fusion, which can increase paravertebral soft tissue damage and perioperative bleeding. The purpose of this report is to describe a rare case of traumatic double fractures at the cervico-thoracic and thoraco-lumbar transition zones in ankylosing spine with spondylo-epiphyseal dysplasia (SED) of unknown cause, which were successfully treated with a combined open and percutaneous spinal fusion procedure...
February 7, 2018: BMC Research Notes
https://www.readbyqxmd.com/read/29274861/hybrid-total-hip-arthroplasty-for-multiple-epiphyseal-dysplasia
#5
J Vanlommel, L Vanlommel, B Molenaers, J-P Simon
BACKGROUND: Multiple Ephiphyseal Dysplasia (MED) is a rare autosomal dominant skeletal dysplasia that causes deformation of the epiphysis of the involved joints. The hips are invariably affected and symptoms due to incapacitating early onset degenerative hip disease often begin between the second and fourth decade of life. Literature regarding the clinical and radiographical outcomes after total hip arthroplasty in this young population are very scarce. Hypothesis in patients with multiple epiphyseal dysplasia and early onset degenerative hip disease, hybrid total hip arthroplasty is a safe and reliable procedure...
December 21, 2017: Orthopaedics & Traumatology, Surgery & Research: OTSR
https://www.readbyqxmd.com/read/29162415/novel-mutations-in-the-cartilage-oligomeric-matrix-protein-gene-identified-in-two-taiwanese-patients-with-pseudoachondroplasia-and-multiple-epiphyseal-dysplasia
#6
Wei-De Lin, I-Ching Chou, Chung-Hsing Wang, Fuu-Jen Tsai
No abstract text is available yet for this article.
October 19, 2017: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/29145110/traumatic-separation-of-osseous-segments-in-a-double-layered-patella
#7
Andreas Jørgensen, Erik Brandt, Anton Ulstrup
INTRODUCTION: Double-layered patella is a rare intra-articular disorder associated with multiple epiphyseal dysplasia. PRESENTATION OF CASE: We present a case of a 40-year old man with acute pain in his left knee after a tackle during soccer play. DISCUSSION: Clinical examination and radiographs confirmed the diagnosis of a bilateral double-layered patella with traumatic separation of the osseous segments on the afflicted left side. Surgical management comprised of open arthrotomy and debridement of the bony interface...
2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/29024831/multiple-slc26a2-mutations-occurring-in-a-three-generational-family
#8
Ana Coral Barreda-Bonis, Jimena Barraza-García, Manuel Parrón, Ignacio Pastor, Karen E Heath, Isabel González-Casado
Multiple epiphyseal dysplasias (MED) are a group of heterogeneous skeletal dysplasias, which share a common phenotype: short stature, skeletal deformities, joint pain and early onset osteoarthritis. Mutations in COMP account for approximately half of autosomal dominant MED cases whilst SLC26A2 mutations account for ∼25% of the recessive cases in the Caucasian population. We present here an interesting family, which was thought to initially have an autosomal dominant skeletal dysplasia. Using a targeted sequencing skeletal dysplasia panel, the proband was found to be a compound heterozygote for two mutations in SLC26A2, one novel mutation, p...
January 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28860685/modyfied-wedge-osteotomy-for-osteoarthritis-of-elbow-secondary-to-osteochondritis-dissecans-in-adolecent-with-multiple-epiphyseal-dysplasia-a-case-report
#9
Takashi Yoshida, Wook-Cheol Kim, Yoshinobu Oka, Masashi Nakase, Atsushi Nishida, Hiroaki Wada, Yuji Arai, Toshikazu Kubo
Multiple epiphyseal dysplasia (MED) may be complicated by osteochondritis dissecans (OCD), most commonly reported in the knee, but involvement of the elbow is very rare. Optimal treatment for MED-associated elbow OCD and treatment outcome have not been established. This report describes the case of an adolescent male patient with elbow OCD treated by arthroscopic drilling at a previous clinic. Progression of osteoarthritis and radial head subluxation were observed. Resection of the osteophytes and modified wedge osteotomy of the lateral condyle were then performed, and a favorable result was obtained by decompression and sufficient congruency of the radiohumeral joint...
December 2017: Journal of Orthopaedics
https://www.readbyqxmd.com/read/28828057/dysplasia-epiphysealis-hemimelica-a-histological-comparative-study-with-osteochondromas
#10
J Stevens, T J M Welting, A M Witlox, L W van Rhijn, H M Staal
PURPOSE: Dysplasia epiphysealis hemimelica (DEH) is a rare developmental disorder resulting in epiphyseal overgrowth. Based on histological appearance, it is often described as an osteochondroma or osteochondroma-like lesion, although clinical differences exist between DEH and osteochondromas. The aim of this study was to test whether DEH and osteochondromas are histologically identical diseases. METHODS: Tissue samples of two age- and gender-matched cases with DEH and hereditary multiple exostoses were histologically compared...
June 1, 2017: Journal of Children's Orthopaedics
https://www.readbyqxmd.com/read/28742282/med-resulting-from-recessively-inherited-mutations-in-the-gene-encoding-calcium-activated-nucleotidase-cant1
#11
Karthika Balasubramanian, Bing Li, Deborah Krakow, Lisette Nevarez, Patric J Ho, Julia A Ainsworth, Deborah A Nickerson, Michael J Bamshad, LaDonna Immken, Ralph S Lachman, Daniel H Cohn
Multiple Epiphyseal Dysplasia (MED) is a relatively mild skeletal dysplasia characterized by mild short stature, joint pain, and early-onset osteoarthropathy. Dominantly inherited mutations in COMP, MATN3, COL9A1, COL9A2, and COL9A3, and recessively inherited mutations in SLC26A2, account for the molecular basis of disease in about 80-85% of the cases. In two families with recurrent MED of an unknown molecular basis, we used exome sequencing and candidate gene analysis to identify homozygosity for recessively inherited missense mutations in CANT1, which encodes calcium-activated nucleotidase 1...
September 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28685811/homozygosity-for-a-missense-variant-in-comp-gene-associated-with-severe-pseudoachondroplasia
#12
M Tariq, T N Khan, L Lundin, M Jameel, T Lönnerholm, S M Baig, N Dahl, J Klar
The phenotypic spectrum associated with heterozygous mutations in cartilage oligomeric matrix protein gene (COMP) range from a mild form of multiple epiphyseal dysplasia (MED) to pseudoachondroplasia (PSACH). However, the phenotypic effect from biallelic COMP variants is unclear. We investigated a large consanguineous Pakistani family with a severe form of PSACH in 2 individuals. Another 14 family members presented with a mild PSACH phenotype similar to MED. Using exome sequencing and subsequent segregation analysis, we identified homozygosity for a COMP missense variant [c...
January 2018: Clinical Genetics
https://www.readbyqxmd.com/read/28331220/identification-of-biallelic-extl3-mutations-in-a-novel-type-of-spondylo-epi-metaphyseal-dysplasia
#13
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...
August 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28051032/diagnosis-with-multiple-epiphyseal-dysplasia-using-whole-exome-sequencing-in-a-chinese-family
#14
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
https://www.readbyqxmd.com/read/27796801/the-femoro-epiphyseal-acetabular-roof-fear-index-a-new-measurement-associated-with-instability-in-borderline-hip-dysplasia
#15
COMPARATIVE STUDY
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
https://www.readbyqxmd.com/read/27398645/the-fate-of-hips-that-are-conservatively-treated-in-multiple-epiphyseal-dysplasia
#16
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...
November 2017: Journal of Pediatric Orthopedics. Part B
https://www.readbyqxmd.com/read/27392305/partial-double-layered-patella-in-a-nondysplasic-adolescent
#17
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
https://www.readbyqxmd.com/read/27354941/extensive-arthroscopic-chondroplasty-for-cartilage-hyperplasia-of-the-femoral-condyle-causing-recurrent-knee-locking-in-a-patient-with-multiple-epiphyseal-dysplasia
#18
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
https://www.readbyqxmd.com/read/27298900/traumatic-fracture-in-a-patient-of-osteopoikilosis-with-review-of-literature
#19
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
https://www.readbyqxmd.com/read/27295358/beaulieu-boycott-innes-syndrome-an-intellectual-disability-syndrome-with-characteristic-facies
#20
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
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