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https://www.readbyqxmd.com/read/29437806/rhabdomyolysis-in-stuve-wiedemann-syndrome
#1
Pemantah Sandheeah Ramdeny, Colin Powell, Mallinath Chakraborty, Louise Hartley
A 6-month-old male infant with Stuve-Wiedemann syndrome (SWS) presented with an acute respiratory arrest secondary to a rhinovirus respiratory infection from which he was rapidly resuscitated. He developed an acute kidney injury requiring supportive treatment and on day 3 of his illness was noted to have developed severe rhabdomyolysis (creatine kinase level 132 040 U/L (normal <320 U/L)). He was born from consanguineous parents with homozygous mutations in the leukaemia inhibitory factor receptor. He had skeletal dysplasia with metabolic bone disease and episodes of hyperthermia with lactic acidosis...
February 8, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29425758/long-term-effects-of-distraction-osteogenesis-of-the-mandible
#2
Zachary S Peacock, Alfonso Salcines, Maria J Troulis, Leonard B Kaban
PURPOSE: 1) To assess the fate of the permanent teeth in and adjacent to the regenerate in pediatric patients who underwent mandibular distraction osteogenesis (DO) and 2) to compare the postoperative growth of the distracted mandible with age- and gender-matched controls. PATIENTS AND METHODS: This was a retrospective cohort study of children who underwent mandibular DO during the primary or mixed dentition period and before completion of somatic growth (boys aged ≤14 years and girls aged ≤12 years) at Massachusetts General Hospital from 1996 to 2014...
January 31, 2018: Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/29416170/benign-aggressive-lesions-of-femoral-head-and-neck-is-salvage-possible
#3
Yogesh Panchwagh, Sujit K Joshi, Parag K Sancheti
Background: Benign aggressive bone lesions of the femoral head and neck are mostly seen in young adults and warrant treatment for pain, impending fracture or established fracture, and disease clearance. It becomes challenging to treat them effectively while attempting salvage of the femoral head and yet achieving long term disease control with minimum complications. We describe our technique and experience in dealing with these lesions which can achieve the above-mentioned goals and can be easily replicated...
January 2018: Indian Journal of Orthopaedics
https://www.readbyqxmd.com/read/29410707/a-novel-proximal-3q29-chromosome-microdeletion-in-a-chinese-patient-with-chiari-malformation-type-ii-and-sprengel-s-deformity
#4
Shuai Guo, Xue-Feng Fan, Jie-Yuan Jin, Liang-Liang Fan, Lei Zeng, Zheng-Bing Zhou, Rong Xiang, Ju-Yu Tang
Background: Chiari malformation type II (CM-II) is mainly characterized by elongation and descent of the cerebellum through the foramen magnum into the spinal canal. Moreover, CM-II is uniquely associated with myelomeningocele. Sprengel's deformity refers to the malposition of the scapula, i.e. scapular elevation which is sometimes accompanied with scapula dysplasia. Although few familial cases of CM-II and Sprengel's deformity have been previously reported, both of these defects are considered to be sporadic, thus the exact etiology and causative genes have largely remained unknown...
2018: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29409074/skeletal-dysplasias-radiologic-approach-with-common-and-notable-entities
#5
Anh-Vu Ngo, Mahesh Thapa, Jeffrey Otjen, Shawn E Kamps
Skeletal dysplasia is a heterogeneous group of abnormalities affecting growth and development of bone and cartilage characterized by disproportionate shortening of the limbs and/or spine. A systematic radiographic approach combined with pertinent clinical details can help guide specific genetic testing and treatment. We provide a discussion and examples of a few common and notable skeletal dysplasias to help familiarize general, pediatric, and musculoskeletal radiologists who do not commonly encounter children with these entities in their daily practices...
February 2018: Seminars in Musculoskeletal Radiology
https://www.readbyqxmd.com/read/29390266/pycnodysostosis-with-novel-gene-mutation-and-sporadic-medullary-thyroid-carcinoma-a-case-report
#6
Xiulin Shi, Caoxin Huang, Fangsen Xiao, Wei Liu, Jinyang Zeng, Xuejun Li
RATIONALE: Pycnodysostosis is a rare autosomal recessive skeletal dysplasia caused by a mutation in the cathepsin K encoded by cathepsin K gene (CTSK). Medullary thyroid carcinoma (MTC) is also a relatively rare type of primary thyroid carcinoma. PATIENT CONCERNS: A 31-year-old woman presenting a short stature and a palpable nodule in the front of her neck that had gradually increased in size during the last 2 years was referred to our department. She has experienced multiple fractures at lower limbs in the last 2 decades...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29383834/nonsense-mutations-in-fzd2-cause-autosomal-dominant-omodysplasia-robinow-syndrome-like-phenotypes
#7
Keisuke Nagasaki, Gen Nishimura, Toru Kikuchi, Hiromi Nyuzuki, Sunao Sasaki, Yohei Ogawa, Akihiko Saitoh
Omodysplasia-2 (OMOD2; OMIM%16475) is a rare autosomal dominant (AD) skeletal dysplasia characterized by shortened humeri, short first metacarpal, craniofacial dysmorphism (frontal bossing, depressed nasal bridge, bifid nasal tip, and long philtrum), and variable degrees of genitourinary anomalies. This clinical phenotype overlaps with that of AD type Robinow syndrome. Recently, a mutation in FZD2 encoding a Frizzled Class Receptor 2 has been identified in a family with AD omodysplasia (an affected girl and her affected mother)...
January 31, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29381910/somatic-kras-mutation-in-an-infant-with-linear-nevus-sebaceous-syndrome-associated-with-lymphatic-malformations-a-case-report-and-literature-review
#8
Jiang Lihua, Gao Feng, Mao Shanshan, Xu Jialu, Jiang Kewen
RATIONALE: Linear nevus sebaceous syndrome (LNSS) is a rare neurocutaneous syndrome, characterized by nevus sebaceous,central nervous system (CNS), ocular and skeletal abnormalities. The present study describes KRAS somatic mosaic mutation in a case of LNSS with lymphatic malformations (LMs). PATIENT CONCERNS: A 4-month-old female with a clinical diagnosis of LNSS presented with infantile spasms, mental retardation, skull dysplasia, ocular abnormalities, congenital atrial septal defect, and LMs...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29360985/temporal-requirement-of-dystroglycan-glycosylation-during-brain-development-and-rescue-of-severe-cortical-dysplasia-via-gene-delivery-in-the-fetal-stage
#9
Atsushi Sudo, Motoi Kanagawa, Mai Kondo, Chiyomi Ito, Kazuhiro Kobayashi, Mitsuharu Endo, Yasuhiro Minami, Atsu Aiba, Tatsushi Toda
Congenital muscular dystrophies (CMDs) are characterized by progressive weakness and degeneration of skeletal muscle. In several forms of CMD, abnormal glycosylation of α-dystroglycan (α-DG) results in conditions collectively known as dystroglycanopathies, which are associated with central nervous system involvement. We recently demonstrated that fukutin, the gene responsible for Fukuyama congenital muscular dystrophy, encodes the ribitol-phosphate transferase essential for dystroglycan function. Brain pathology in patients with dystroglycanopathy typically includes cobblestone lissencephaly, mental retardation, and refractory epilepsy; however, some patients exhibit average intelligence, with few or almost no structural defects...
January 19, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29360984/regulation-of-ciliary-function-by-fibroblast-growth-factor-signaling-identifies-fgfr3-related-disorders-achondroplasia-and-thanatophoric-dysplasia-as-ciliopathies
#10
Michaela Kunova Bosakova, Miroslav Varecha, Marek Hampl, Ivan Duran, Alexandru Nita, Marcela Buchtova, Hana Dosedelova, Radek Machat, Yangli Xie, Zhenhong Ni, Jorge H Martin, Lin Chen, Gert Jansen, Deborah Krakow, Pavel Krejci
Cilia project from almost every cell integrating extracellular cues with signaling pathways. Constitutive activation of FGFR3 signaling produces the skeletal disorders achondroplasia (ACH) and thanatophoric dysplasia (TD), but many of the molecular mechanisms underlying these phenotypes remain unresolved. Here, we report in vivo evidence for significantly shortened primary cilia in ACH and TD cartilage growth plates. Using in vivo and in vitro methodologies, our data demonstrate that transient versus sustained activation of FGF signaling correlated with different cilia consequences...
January 17, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29354746/the-genetic-implication-of-scoliosis-in-osteogenesis-imperfecta-a-review
#11
REVIEW
Gang Liu, Jia Chen, Yangzhong Zhou, Yuzhi Zuo, Sen Liu, Weisheng Chen, Zhihong Wu, Nan Wu
Osteogenesis imperfecta (OI) is a kind of heritable connective tissue disorder, including blue sclerae, hearing loss, skeletal dysplasia causing bone fragility and deformities. It is typically caused by collagen related gene mutations, which could lead to bone formation abnormalities. Scoliosis is one of the most common and severe spinal phenotype which has been reported in approximately 26-74.5% of all OI patients. Recent breakthroughs have suggested that OI can be divided into more than 16 types based on genetic mutations with different degrees of scoliosis...
December 2017: Journal of Spine Surgery (Hong Kong)
https://www.readbyqxmd.com/read/29341480/cutis-laxa-and-excessive-bone-growth-due-to-de-novo-mutations-in-ptdss1
#12
Juliette Piard, James Lespinasse, Marketa Vlckova, Martin A Mensah, Sorin Iurian, Martina Simandlova, Marcela Malikova, Oliver Bartsch, Massimiliano Rossi, Marion Lenoir, Frédérique Nugues, Stefan Mundlos, Uwe Kornak, Philip Stanier, Sérgio B Sousa, Lionel Van Maldergem
The cutis laxa syndromes are multisystem disorders that share loose redundant inelastic and wrinkled skin as a common hallmark clinical feature. The underlying molecular defects are heterogeneous and 13 different genes have been involved until now, all of them being implicated in elastic fiber assembly. We provide here molecular and clinical characterization of three unrelated patients with a very rare phenotype associating cutis laxa, facial dysmorphism, severe growth retardation, hyperostotic skeletal dysplasia, and intellectual disability...
January 17, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29336932/orthognathic-surgery-in-melnick-needles-syndrome-a-review-of-the-literature-and-report-of-two-siblings
#13
REVIEW
J E O'Connell, B Bourke, G J Kearns
Melnick-Needles syndrome (MNS) is a rare congenital X-linked dominant skeletal dysplasia, characterized by exophthalmos, a prominent forehead, and mandibular hypoplasia and retrognathism. Dental features may include anodontia, hypodontia, or oligodontia. Increased collagen content, unpredictable collagen synthesis, and abnormal bony architecture have raised concerns regarding bone splitting intraoperatively and bone healing postoperatively. This report describes the cases of two sisters with MNS, who successfully underwent orthognathic surgery consisting of bilateral mandibular ramus osteotomies combined with advancement genioplasty and iliac crest bone grafting, to correct the classical MNS facial deformity of mandibular retrognathia...
January 11, 2018: International Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/29329488/genetic-and-molecular-insights-into-genotype-phenotype-relationships-in-osteopathia-striata-with-cranial-sclerosis-oscs-through-the-analysis-of-novel-mouse-wtx-mutant-alleles
#14
Glenda Comai, Agnès Boutet, Kristina Tanneberger, Filippo Massa, Ana-Sofia Rocha, Aurelie Charlet, Clara Panzolini, Fariba Jian Motamedi, Robert Brommage, Wolfgang Hans, Thomas Funck-Brentano, Martin Hrabe de Angelis, Christine Hartmann, Martine Cohen-Solal, Jürgen Behrens, Andreas Schedl
The X-linked WTX/AMER1 protein forms an important component of the β-catenin destruction complex that can both enhance and suppress canonical β-catenin signalling. Somatic mutations in WTX/AMER1 have been found in a proportion of the pediatric kidney cancer Wilms' tumour. By contrast, germline mutations cause the severe sclerosing bone dysplasia osteopathia striata congenita with cranial sclerosis (OSCS), a condition usually associated with fetal or perinatal lethality in male patients. Here we addressed the developmental and molecular function of WTX by generating two novel mouse alleles...
January 12, 2018: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/29326877/natural-history-of-morquio-a-patient-with-tracheal-obstruction-from-birth-to-death
#15
Caitlin Doherty, Lauren W Averill, Mary Theroux, William G Mackenzie, Christian Pizarro, Robert W Mason, Shunji Tomatsu
Morquio A syndrome (mucopolysaccharidosis IVA, MPS IVA) is a lysosomal storage disease caused by a deficiency of N-acetylgalactosamine-6-sulfate sulfatase, resulting in systemic accumulation of the partially degraded glycosaminoglycans (GAGs), keratan sulfate and chondroitin-6-sulfate. The accumulation of these GAGs leads to distinguishing features as skeletal dysplasia with disproportionate dwarfism, short neck, kyphoscoliosis, pectus carinatum, tracheal obstruction, coxa valga, genu valgum, and joint laxity...
March 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/29322508/a-novel-homozygous-variant-in-bmpr1b-underlies-acromesomelic-dysplasia-hunter-thompson-type
#16
Asmat Ullah, Muhammad Umair, Dost Muhammad, Muhammad Bilal, Kwanghyuk Lee, Suzanne M Leal, Wasim Ahmad
Acromesomelic dysplasia is genetically heterogeneous group of skeletal disorders characterized by short stature and acromelia and mesomelia of limbs. Acromesomelic dysplasia segregates in an autosomal recessive pattern and is caused by biallelic sequence variants in three genes (NPR2, GDF5, and BMPR1B). A consanguineous family of Pakistani origin segregating a subtype of acromesomelic dysplasia called Hunter-Thompson was clinically and genetically evaluated. Genotyping of microsatellite markers and linkage analysis revealed a 7...
January 10, 2018: Annals of Human Genetics
https://www.readbyqxmd.com/read/29321360/ellis-van-creveld-syndrome-and-profound-deafness-resulted-by-sequence-variants-in-the-evc-evc2-and-tmc1-genes
#17
Muhammad Umair, Heide Seidel, Ishtiaq Ahmed, Asmat Ullah, Tobias B Haack, Bader Alhaddad, Abid Jan, Afzal Rafique, Tim M Strom, Farooq Ahmad, Thomas Meitinger, Wasim Ahmad
Ellis-van Creveld syndrome is an autosomal recessive skeletal dysplasia primarily characterized by the features such as disproportionate dwarfism, short ribs, short limbs, dysplastic nails, cardiovascular malformations, post-axial polydactyly (PAP) (bilateral) of hands and feet. EVC/EVC2 located in head-to-head arrangement on chromosome 4p16 are the causative genes for EvC syndrome. In the study, we present two families, A and B, with Pakistani and Republic of Kosovo origin, respectively. They showed features of EvC syndrome and were clinically and genetically characterized...
December 2017: Journal of Genetics
https://www.readbyqxmd.com/read/29302380/a-case-of-fatal-pulmonary-hypoplasia-with-congenital-diaphragmatic-hernia-thoracic-myelomeningocele-and-thoracic-dysplasia
#18
Ai Ito, Hideshi Fujinaga, Sachiko Matsui, Kumiko Tago, Yuka Iwasaki, Shuhei Fujino, Junko Nagasawa, Shoichiro Amari, Masao Kaneshige, Yuka Wada, Shigehiro Takahashi, Keiko Tsukamoto, Osamu Miyazaki, Takako Yoshioka, Akira Ishiguro, Yushi Ito
Background  Congenital diaphragmatic hernia (CDH) is fatal in severe cases of pulmonary hypoplasia. We experienced a fatal case of pulmonary hypoplasia due to CDH, thoracic myelomeningocele (MMC), and thoracic dysplasia. This constellation of anomalies has not been previously reported. Case Report  A male infant with a prenatal diagnosis of thoracic MMC with severe hydrocephalus and scoliosis was born at 36 weeks of gestation. CDH was found after birth and the patient died of respiratory failure due to pulmonary hypoplasia and persistent pulmonary hypertension of the newborn at 30 hours of age despite neonatal intensive care...
October 2017: American Journal of Perinatology Reports
https://www.readbyqxmd.com/read/29299655/medial-patellofemoral-ligament-reconstruction-in-children-do-osseous-abnormalities-matter
#19
Sebastien Pesenti, Matthieu Ollivier, Jean-Charles Escudier, Mathieu Cermolacce, Alexandre Baud, Franck Launay, Jean-Luc Jouve, Elie Choufani
PURPOSE: Management of post-traumatic patellar instability in children with osseous abnormalities is challenging because of the presence of an open physis. The aim of our study was to compare the rate of recurrence after isolated reconstruction of the medial patellofemoral ligament (MPFL) in children with or without osseous abnormalities. METHODS: The medical records of 25 children (27 knees) with recurrent patellar dislocation were reviewed. Each child underwent an isolated reconstruction of the MPFL using a hamstring graft...
January 4, 2018: International Orthopaedics
https://www.readbyqxmd.com/read/29287649/pharyngeal-airway-evaluation-after-isolated-mandibular-setback-surgery-using-cone-beam-computed-tomography
#20
Shireen K Irani, Donald R Oliver, Reza Movahed, Yong-Il Kim, Guilherme Thiesen, Ki Beom Kim
INTRODUCTION: In this study, we investigated volumetric and dimensional changes to the pharyngeal airway space after isolated mandibular setback surgery for patients with Class III skeletal dysplasia. METHODS: Records of 28 patients who had undergone combined orthodontic and mandibular setback surgery were obtained. The sample comprised 17 men and 11 women. Their mean age was 23.88 ± 6.57 years (range, 18-52 years). Cone-beam computed tomography scans were obtained at 3 time points: before surgery, average of 6 months after surgery, and average of 1 year after surgery...
January 2018: American Journal of Orthodontics and Dentofacial Orthopedics
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