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Chondrodysplasia

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https://www.readbyqxmd.com/read/29912012/a-case-report-of-a-suspected-dual-diagnosis-22q11-2-deletion-syndrome-and-x-linked-chondrodysplasia-punctata
#1
Elise Brimble, Michelle Pacione, Ellyn Farrelly, David A Stevenson, Maura R Z Ruzhnikov
No abstract text is available yet for this article.
June 14, 2018: Clinical Dysmorphology
https://www.readbyqxmd.com/read/29872333/achondrogenesis-type-1a-clinical-histologic-molecular-and-prenatal-ultrasound-diagnosis
#2
Sara Vanegas, Luz Fernanda Sua, Jaime López-Tenorio, Diana Ramírez-Montaño, Harry Pachajoa
Background: Achondrogenesis type IA (ACG1A) is a rare, lethal autosomal recessive chondrodysplasia affecting endochondral bone ossification and differentiation, causing intrauterine growth restriction, narrow thorax, and short limbs. Mutations in TRIP11 , which encodes Golgi microtubule-binding protein 210 in the Golgi apparatus, alter protein transport in tissues. Case presentation: A 28-week gestation male fetus was diagnosed with ACG1A by clinical, radiological, histologic, and molecular findings...
2018: Application of Clinical Genetics
https://www.readbyqxmd.com/read/29797497/piepkorn-type-of-osteochondrodysplasia-defining-the-severe-end-of-flnb-related-skeletal-disorders-in-three-fetuses-and-a-106-year-old-exhibit
#3
Helga Rehder, Franco Laccone, Susanne G Kircher, Ralf L Schild, Christiane Rapp, Rainer Bald, Bernt Schulze, Jana Behunova, Juergen Neesen, Katharina Schoner
The Piepkorn type of lethal osteochondrodysplasia (POCD) is a rare and lethal dwarfing condition. Four cases have been reported to date. The characteristic features are distinctly shortened "flipper-like" limbs, polysyndactyly, excessive underossification, especially of the limb bones and vertebrae, and large (giant) chondrocytes in the cartilaginous bone primordia. These characteristics allowed the diagnosis of Piepkorn type of osteochondrodysplasia in four new cases, three fetuses of 15 to 22 weeks and one 106-year-old museum exhibit...
May 23, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29788189/progression-of-mineral-ion-abnormalities-in-patients-with-jansen-s-metaphyseal-chondrodysplasia
#4
Hiroshi Saito, Hiroshi Noda, Philippe Gatault, Detlef Böckenhauer, Kah Yin Loke, Olaf Hiort, Caroline Silve, Erin Sharwood, Regina Matsunaga Martin, Michael J Dillon, David Gillis, Mark Harris, Sudhaker D Rao, Richard M Pauli, Thomas J Gardella, Harald Jüppner
Context: Five different activating PTH/PTHrP receptor (PTHR1) mutations have been reported as causes of Jansen metaphyseal chondrodysplasia (JMC), a rare disorder characterized by severe growth plate abnormalities and PTH-independent hypercalcemia. Objectives: Assess the natural history of clinical and laboratory findings in twenty-four JMC patients and characterize the disease-causing mutant receptors in vitro. Patients and Methods: The H223R mutation occurred in 18 patients...
May 16, 2018: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29744913/cartilage-hair-hypoplasia-with-cutaneous-lymphomatoid-granulomatosis
#5
D Sathishkumar, J E Gach, M Ogboli, M Desai, T Cole, W Högler, J Motwani, A Norton, B Morland, I Colmenero
Cartilage-hair hypoplasia (CHH) is an autosomal recessive chondrodysplasia characterized by short-stature, sparse hair and impaired cellular immunity. We describe a young girl who was diagnosed with CHH based on the findings of recurrent infections, short stature with metaphyseal chondrodysplasia, and a confirmed bi-allelic RMRP gene mutation. At 13 years, the patient developed an Epstein-Barr virus (EBV)-driven lymphoproliferative disorder involving the lung, which responded partially to chemotherapy. Simultaneously, she developed multiple indurated plaques involving her face, which had histological findings of granulomatous inflammation and EBV-associated low-grade lymphomatoid granulomatosis...
May 10, 2018: Clinical and Experimental Dermatology
https://www.readbyqxmd.com/read/29744569/widespread-and-debilitating-hemangiomas-in-a-patient-with-enchondromatosis-and-d-2-hydroxyglutaric-aciduria
#6
Patra Yeetong, Teerasak Phewplung, Wuttichart Kamolvisit, Kanya Suphapeetiporn, Vorasuk Shotelersuk
Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA) (OMIM 614875) is a severe chondrodysplasia combined with a urinary excretion of D-2-hydroxyglutaric acid. Here, we reported the tenth case of this disease. A 15-year-old boy had symmetric radiolulencies in the metaphyses of the long bones suggesting enchondromatosis and platyspondyly. Remarkably, he manifested widespread cavernous hemangiomas including scalp, lips, tongue, larynx, and prepuce, with the onset of 3 years of age. Hemangiomas at the larynx had caused dyspnea and those in the oral cavity led to recurrent bleeding, requiring several surgical removals...
May 10, 2018: Skeletal Radiology
https://www.readbyqxmd.com/read/29735531/smad4-deficiency-impairs-chondrocyte-hypertrophy-via-the-runx2-transcription-factor-in-mouse-skeletal-development
#7
Jianyun Yan, Jun Li, Jun Hu, Lu Zhang, Chengguo Wei, Nishat Sultana, Xiaoqiang Cai, Weijia Zhang, Chen-Leng Cai
Chondrocyte hypertrophy is the terminal step in chondrocyte differentiation and is crucial for endochondral bone formation. How signaling pathways regulate chondrocyte hypertrophic differentiation remains incompletely understood. In this study, using a Tbx18:Cre (Tbx18Cre/+) gene-deletion approach, we selectively deleted the gene for the signaling protein SMAD family member 4 (Smad4f/f) in the limbs of mice. We found that the Smad4-deficient mice develop a prominent shortened limb, with decreased expression of chondrocyte differentiation markers, including Col2a1 and Acan, in the humerus at mid-to-late gestation...
May 7, 2018: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29720879/fetal-chondrodysplasia-punctata-associated-with-maternal-autoimmune-diseases-a-review
#8
REVIEW
Hadeel Alrukban, David Chitayat
Chondrodysplasia punctata (CDP) is a skeletal abnormality characterized by premature calcification that is usually noticeable in the prenatal period and infancy. Etiologically, the condition is heterogeneous, and the causes include fetal conditions such as chromosome abnormalities, peroxisomal disorders, lysosomal storage disorders, cholesterol synthesis defects and abnormal vitamin K metabolism, as well as maternal diseases such as severe malabsorption and exposure to teratogens. An association between CDP and maternal autoimmune disease was first observed and reported by Curry et al and Costa et al in 1993 and expanded by Chitayat et al in 2010...
2018: Application of Clinical Genetics
https://www.readbyqxmd.com/read/29581481/linked-homozygous-bmpr1b-and-pdha2-variants-in-a-consanguineous-family-with-complex-digit-malformation-and-male-infertility
#9
Yeşerin Yıldırım, Toufik Ouriachi, Ute Woehlbier, Wahiba Ouahioune, Mahmut Balkan, Sajid Malik, Aslıhan Tolun
In affected members of a consanguineous family, a syndrome, which is concurrence of set of medical signs, is often observed and commonly assumed to have arisen from pleiotropy, i.e., the phenomenon of a single gene variant affecting multiple traits. We detected six sibs afflicted with a unique combination of digit malformation that includes brachydactyly, symphalangism and zygodactyly plus infertility in males owing to azoospermia, sperm immotility or necrospermia, which we hypothesised to have arisen from a defect in a single gene...
March 26, 2018: European Journal of Human Genetics: EJHG
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
#10
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/29534284/displacement-of-an-ununited-medial-humeral-condylar-ossification-centre-in-the-cat
#11
Andy Morris, Kerstin Erles, Thomas W Maddox
A 2-year-old cat was presented with the complaint of acute-onset non-weight-bearing lameness of the right forelimb. When examined, the cat was of short stature and had multiple joint and cartilaginous abnormalities suggestive of chondrodysplasia. The cause of the acute lameness was radiographically identified as a displaced osseous fragment from the medial portion of the right humeral condyle. The features of the osseous fragment were consistent with an ununited medial condylar ossification centre of the distal humerus...
February 2018: Veterinary and Comparative Orthopaedics and Traumatology: V.C.O.T
https://www.readbyqxmd.com/read/29522813/paradoxical-roles-of-atf6%C3%AE-and-atf6%C3%AE-in-modulating-disease-severity-caused-by-mutations-in-collagen-x
#12
M Forouhan, K Mori, R P Boot-Handford
Whilst the role of ATF6α in modulating the unfolded protein response (UPR) has been well documented, the function of its paralogue ATF6β is less well understood. Using knockdown in cell culture and gene ablation in mice we have directly compared the roles of ATF6α & β in responding to the increased ER stress induced by mutant forms of type X collagen that cause the ER stress-associated metaphyseal chondrodysplasia type Schmid (MCDS). ATF6α more efficiently deals with the disease-associated ER stress in the absence of ATF6β and conversely, ATF6β is less effective in the absence of ATF6α...
March 6, 2018: Matrix Biology: Journal of the International Society for Matrix Biology
https://www.readbyqxmd.com/read/29514872/homozygous-chst11-mutation-in-chondrodysplasia-brachydactyly-overriding-digits-clino-symphalangism-and-synpolydactyly
#13
Rana Muhammad Kamran Shabbir, Gökhan Nalbant, Nafees Ahmad, Sajid Malik, Aslıhan Tolun
BACKGROUND: Carbohydrate sulfotransferase 11 (CHST11) is a membrane protein of Golgi that catalyses the transfer of sulfate to position 4 of the N-acetylgalactosamine residues of chondroitin. Chondroitin sulfate is the predominant proteoglycan in cartilage, and its sulfation is important in the developing growth plate of cartilage. A homozygous deletion encompassing part of the gene and the embedded miRNA MIR3922 had been detected in a woman with hand/foot malformation and malignant lymphoproliferative disease...
March 7, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29511023/loss-of-mob1a-b-in-mice-results-in-chondrodysplasia-due-to-yap1-taz-tead-dependent-repression-of-sox9
#14
Hiroki Goto, Miki Nishio, Yoko To, Tatsuya Oishi, Yosuke Miyachi, Tomohiko Maehama, Hiroshi Nishina, Haruhiko Akiyama, Tak Wah Mak, Yuma Makii, Taku Saito, Akihiro Yasoda, Noriyuki Tsumaki, Akira Suzuki
Hippo signaling is modulated in response to cell density, external mechanical forces, and rigidity of the extracellular matrix (ECM). The Mps one binder kinase activator (MOB) adaptor proteins are core components of Hippo signaling and influence Yes-associated protein 1 (YAP1) and transcriptional co-activator with PDZ-binding motif (TAZ), which are potent transcriptional regulators. YAP1/TAZ are key contributors to cartilage and bone development but the molecular mechanisms by which the Hippo pathway controls chondrogenesis are largely unknown...
March 16, 2018: Development
https://www.readbyqxmd.com/read/29462708/diversity-of-pubertal-development-in-cartilage-hair-hypoplasia-two-illustrative-cases
#15
Elina Holopainen, Svetlana Vakkilainen, Outi Mäkitie
BACKGROUND: Cartilage-hair hypoplasia (CHH) is a rare chondrodysplasia, including disproportionate short stature, hypoplastic hair, immunodeficiency, and increased risk of malignancies. Absent pubertal growth spurt and absent pubic hair complicate monitoring of pubertal development in these patients. CASES: Two CHH patients with delayed puberty and excessive growth failure are described. One of the girls had hypogonadotropic hypogonadism whereas the other had hyponormogonadotropic hypogonadism with no spontaneous pubertal development and slow response to estrogen therapy, both requiring permanent replacement therapy...
February 17, 2018: Journal of Pediatric and Adolescent Gynecology
https://www.readbyqxmd.com/read/29457563/novel-use-of-the-cochlear-%C3%A2-hybrid-ci24reh-cochlear-implant
#16
Yahya Atiya, Mohamed Razwi Ahmed, Dani Schlesinger-Michelow
Cochlear implantation is becoming more widespread. From its early days to date, huge strides have been made in the technology and surgical technique. However, one challenge remains: implanting malformed or abnormal cochleae. Even more challenging is a cochlea that appears normal at first glance, but is not. We present a case of a child with chondrodysplasia punctata, who had apparently morphologically normal inner ears, but with one major obstacle: the cochlea was smaller than normal in all dimensions. To the best of our knowledge, this is the first case described, and the solution is a novel one as well...
May 2018: Cochlear Implants International
https://www.readbyqxmd.com/read/29397290/complex-care-of-individuals-with-multiple-sulfatase-deficiency-clinical-cases-and-consensus-statement
#17
Rebecca Ahrens-Nicklas, Lars Schlotawa, Andrea Ballabio, Nicola Brunetti-Pierri, Mauricio De Castro, Thomas Dierks, Florian Eichler, Can Ficicioglu, Alan Finglas, Jutta Gaertner, Brian Kirmse, Joerg Klepper, Marcus Lee, Amber Olsen, Giancarlo Parenti, Arastoo Vossough, Adeline Vanderver, Laura A Adang
Multiple sulfatase deficiency (MSD) is an ultra-rare neurodegenerative disorder that results in defective sulfatase post-translational modification. Sulfatases in the body are activated by a unique protein, formylglycine-generating enzyme (FGE) that is encoded by SUMF1. When FGE is absent or insufficient, all 17 known human sulfatases are affected, including the enzymes associated with metachromatic leukodystrophy (MLD), several mucopolysaccharidoses (MPS II, IIIA, IIID, IVA, VI), chondrodysplasia punctata, and X-linked ichthyosis...
March 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29354277/a-novel-de-novo-mutation-in-col2a1-leading-to-spondyloepiphyseal-dysplasia-congenita-in-a-chinese-family
#18
Qiuhong Xiong, Yi Liu, Yu Xue, Shichao Liu, Jing Wang, Ping Li, Changxin Wu, Yanling Yang, Han Xiao
Spondyloepiphyseal dysplasia congenita (SEDC) is an extremely rare autosomal dominant chondrodysplasia that is usually caused by substitution of glycine with another amino acid in the triple helical region of COL2A1. Herein, we describe a case of SEDC in a Chinese family with a novel de novo mutation in the COL2A1 gene, c.1150G>A (p.Gly384Ser), which may impair protein stability and lead to dysfunction of type II collagen.
2018: Human Genome Variation
https://www.readbyqxmd.com/read/29341424/fetal-ultrasonographic-findings-including-cerebral-hyperechogenicity-in-a-patient-with-non-lethal-form-of-raine-syndrome
#19
Kei Tamai, Katsuhiko Tada, Akihito Takeuchi, Makoto Nakamura, Hidenori Marunaka, Yosuke Washio, Hiroyuki Tanaka, Fuyuki Miya, Nobuhiko Okamoto, Misao Kageyama
Raine syndrome is a rare osteosclerotic bone dysplasia characterized by craniofacial anomalies and intracranial calcification. Most patients with Raine syndrome are of Arab ancestry and die during the neonatal period. We herein report a Japanese patient with non-lethal Raine syndrome who presented with characteristic cerebral hyperechogenicity and a hypoplastic nose by fetal ultrasonography. She was admitted to the NICU due to pyriform aperture stenosis. Craniofacial abnormalities, intracranial calcification, osteosclerosis, chondrodysplasia punctata, and a mutation of FAM20C was identified...
January 17, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29310791/matrilins
#20
Mats Paulsson, Raimund Wagener
Marilins mediate interactions between macromolecular components of the extracellular matrix, e.g., collagens and proteoglycans. They are composed of von Willebrand factor type A and epidermal growth factor-like domains and the subunits oligomerize via coiled-coil domains. Matrilin-1 and -3 are abundant in hyaline cartilage, whereas matrilin-2 and -4 are widespread but less abundant. Mutations in matrilin genes have been linked to chondrodysplasias and osteoarthritis and recently characterization of matrilin-deficient mice revealed novel functions in mechanotransduction, regeneration, or inflammation...
2018: Methods in Cell Biology
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