keyword
MENU ▼
Read by QxMD icon Read
search

Skeletal dysplasia

keyword
https://www.readbyqxmd.com/read/29341480/cutis-laxa-and-excessive-bone-growth-due-to-de-novo-mutations-in-ptdss1
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
https://www.readbyqxmd.com/read/29285442/prevalence-and-etiological-profile-of-short-stature-among-school-children-in-a-south-indian-population
#10
Kumaravel Velayutham, S Sivan Arul Selvan, R V Jeyabalaji, S Balaji
Background and Objectives: Short stature (SS) is a common pediatric problem and it might be the first sign of underlying illness. Studies documenting the burden and etiological profile of SS are scarce from India and are mostly limited to data obtained from referral centers. Due to the lack of large-scale, community-based studies utilizing a standard protocol, the present study aimed to assess the prevalence and etiological profile of SS in school children of a South Indian district. Materials and Methods: In this cross-sectional study, children aged 4-16 years from 23 schools in Madurai district, Tamil Nadu, underwent anthropometric measurements and height was plotted in Khadilkar et al...
November 2017: Indian Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29285334/bisphosphonates-therapy-in-children-with-osteogenesis-imperfecta-clinical-experience-in-oral-surgery
#11
G Ierardo, M Bossù, G D'Angeli, M Celli, G Sfasciotti
Objectives: To define the possible complications of oral surgery in childhood in patients affected by type 1 Osteogenesis imperfecta (OI) and treated with bisphosphonates (BP). Methods: The study was conducted among 20 patients in childhood with an age range 8-14 (12 ♂ e 8 ♀) affected by OI. Patients were initially evaluated at the Policlinico Umberto I, University Hospital of Rome, Rare Disease Center Skeletal Dysplasia-Bone Metabolic Pathologies and after at the Policlinico Umberto I, University Hospital of Rome, Head and Neck Department, UOC Pediatric Dentistry...
July 2017: Oral & Implantology
https://www.readbyqxmd.com/read/29282319/expression-of-an-active-g%C3%AE-s-mutant-in-skeletal-stem-cells-is-sufficient-and-necessary-for-fibrous-dysplasia-initiation-and-maintenance
#12
Xuefeng Zhao, Peng Deng, Ramiro Iglesias-Bartolome, Panomwat Amornphimoltham, Dana J Steffen, Yunyun Jin, Alfredo A Molinolo, Luis Fernandez de Castro, Diana Ovejero, Quan Yuan, Qianming Chen, Xianglong Han, Ding Bai, Susan S Taylor, Yingzi Yang, Michael T Collins, J Silvio Gutkind
Fibrous dysplasia (FD) is a disease caused by postzygotic activating mutations of GNAS (R201C and R201H) that encode the α-subunit of the Gs stimulatory protein. FD is characterized by the development of areas of abnormal fibroosseous tissue in the bones, resulting in skeletal deformities, fractures, and pain. Despite the well-defined genetic alterations underlying FD, whether GNAS activation is sufficient for FD initiation and the molecular and cellular consequences of GNAS mutations remains largely unresolved, and there are no currently available targeted therapeutic options for FD...
December 27, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29279436/-asbmr-topics-from-clinical-to-translational-research
#13
Keiichi Ozono
Aging and senescence are main topics in this ASBMR Annual Meeting as both the Aurbach lecture and Avioli award lecture focused on the topic. Osteoporosis is one of typical age-related disease and elimination of senescent cells is new strategy of treatment for osteoporosis. Antibody and synthetic antagonist or agonist which modify the action of hormone and growth factor, an inhibitor of ectopic bone formation and a stimulator of muscle mass have been developed as a new drug for metabolic bone diseases and skeletal dysplasias...
2018: Clinical Calcium
https://www.readbyqxmd.com/read/29276151/bmal1-deficiency-contributes-to-mandibular-dysplasia-by-upregulating-mmp3
#14
Jiajia Zhao, Xin Zhou, Qingming Tang, Ran Yu, Shaoling Yu, Yanlin Long, Cen Cao, Jun Han, Anbing Shi, Jeremy J Mao, Xiong Chen, Lili Chen
Skeletal mandibular hypoplasia (SMH), one of the common types of craniofacial deformities, seriously affects appearance, chewing, pronunciation, and breathing. Moreover, SMH is prone to inducing obstructive sleep apnea syndrome. We found that brain and muscle ARNT-like 1 (BMAL1), the core component of the molecular circadian oscillator, was significantly decreased in mandibles of juvenile SMH patients. Accordingly, SMH was observed in circadian-rhythm-disrupted or BMAL1-deficient mice. RNA sequencing and protein chip analyses suggested that matrix metallopeptidase 3 (MMP3) is the potential target of BMAL1...
December 14, 2017: Stem Cell Reports
https://www.readbyqxmd.com/read/29276006/wnt-signaling-perturbations-underlie-the-genetic-heterogeneity-of-robinow-syndrome
#15
Janson J White, Juliana F Mazzeu, Zeynep Coban-Akdemir, Yavuz Bayram, Vahid Bahrambeigi, Alexander Hoischen, Bregje W M van Bon, Alper Gezdirici, Elif Yilmaz Gulec, Francis Ramond, Renaud Touraine, Julien Thevenon, Marwan Shinawi, Erin Beaver, Jennifer Heeley, Julie Hoover-Fong, Ceren D Durmaz, Halil Gurhan Karabulut, Ebru Marzioglu-Ozdemir, Atilla Cayir, Mehmet B Duz, Mehmet Seven, Susan Price, Barbara Merfort Ferreira, Angela M Vianna-Morgante, Sian Ellard, Andrew Parrish, Karen Stals, Josue Flores-Daboub, Shalini N Jhangiani, Richard A Gibbs, Han G Brunner, V Reid Sutton, James R Lupski, Claudia M B Carvalho
Locus heterogeneity characterizes a variety of skeletal dysplasias often due to interacting or overlapping signaling pathways. Robinow syndrome is a skeletal disorder historically refractory to molecular diagnosis, potentially stemming from substantial genetic heterogeneity. All current known pathogenic variants reside in genes within the noncanonical Wnt signaling pathway including ROR2, WNT5A, and more recently, DVL1 and DVL3. However, ∼70% of autosomal-dominant Robinow syndrome cases remain molecularly unsolved...
January 4, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29274861/hybrid-total-hip-arthroplasty-for-multiple-epiphyseal-dysplasia
#16
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/29262478/-clinical-characteristics-of-thyroid-hormone-resistance-syndrome-in-two-cases-with-different-subtypes
#17
H Sun, X L Chen, T Chen, H Y Wu, R R Xie, F Y Wang, X Y Wang, L Q Chen
Objective: To analyze the clinical characteristics of children with two types of thyroid hormone resistance (RTH) syndrome, and to detect the variants of thyroid hormone receptor alpha(TRα) and TRβ gene in children. Method: Two children with RTH were reported in regard to clinical manifestation, laboratory examination and genetic variants. Some related reports in literature were reviewed. Result: Case 1 was a girl, 10 years old, with thyroid enlargement for several days and without thyrotoxicosis. Laboratory work-up revealed that free thyroxine (FT(4)) was 65...
December 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29262476/-short-stature-optic-nerve-atrophy-and-pelger-hu%C3%A3-t-anomaly-syndrome-with-antibody-immunodeficiency-and-aplastic-anemia-a-case-report-and-literature-review
#18
T Y He, N Zhang, Y Xia, Y Luo, C R Li, J Yang
Objective: To investigate the clinical features and genetic characteristics of cases with NBAS gene defects. Method: Characteristics of clinical materials, immunological data and gene mutation of the first case in China with NBAS gene mutation were retrospectively analyzed. The related literature was searched by using search terms'NBAS'. Result: A 2-year-four-month old girl, was admitted due to 'fever and pallor for one day'. There was an intrauterine growth retardation at her fetal stage. Since her birth, she had suffered from recurrent infections and development delay was accompanied by persistent liver dysfunction...
December 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29258992/late-diagnosis-of-a-truncating-wisp3-mutation-results-in-a-severe-phenotype-of-progressive-pseudorheumatoid-dysplasia
#19
Salem Alawbathani, Amit Kawalia, Mert Karakaya, Janine Altmueller, Peter Nuernberg, Sebahattin Cirak
Rare diseases are often misdiagnosed or receive a delayed diagnosis and thus unfortunately affected individuals may not receive optimal medical management. Here, we report a case of two siblings with a severe phenotype of progressive pseudorheumatoid dysplasia (PPD). Their onset of symptoms began at the age of 3 years. Both were neglected in the past and the patients presented with a very severe phenotype and unmitigated natural history. PPD is a rare autosomal recessive skeletal dysplasia characterized by progressive joint stiffness, swelling and pain...
December 19, 2017: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/29250336/preoperative-planning-for-redirective-periacetabular-osteotomies
#20
REVIEW
Christoph E Albers, Piet Rogers, Nicholas Wambeek, Sufian S Ahmad, Piers J Yates, Gareth H Prosser
Redirective, periacetabular osteotomies (PAO) represent a group of surgical procedures for treatment of developmental dysplasia of the hip (DDH) in skeletally mature and immature patients. The ultimate goal of all procedures is to reduce symptoms, improve function and delay or prevent progression of osteoarthritis. During the last two decades, the understanding of the underlying pathomechanisms has continuously evolved. This is mainly attributable to the development of the femoroacetabular impingement concept that has increased the awareness of the underlying three-dimensional complexity associated with DDH...
December 2017: Journal of Hip Preservation Surgery
keyword
keyword
36467
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"