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https://www.readbyqxmd.com/read/29234185/ellis-van-creveld-with-an-unusual-dental-anomaly-a-case-report
#1
Suzanne Tanya Nethan, Shruti Sinha, Sunira Chandra
The Ellis-van Creveld (EVC) syndrome is a chondroectodermal dysplasia and is characterized by the cardinal features of disproportionate short stature, polydactyly, hidrotic ectodermal dysplasia, and congenital heart malformations, along with other skeletal and dental abnormalities. It is a rare condition, with very few cases reported in the medical literature. It is inherited as an autosomal recessive disorder with variable expressions, due to the mutation of the EVC syndrome 1 and 2 genes, which are located on chromosome 4p16...
September 2017: Iranian Journal of Medical Sciences
https://www.readbyqxmd.com/read/29230162/a-novel-de-novo-fzd2-mutation-in-a-patient-with-autosomal-dominant-omodysplasia
#2
Seval Türkmen, Malte Spielmann, Nilay Güneş, Alexej Knaus, Ricarda Flöttmann, Stefan Mundlos, Beyhan Tüysüz
We described a heterozygous de novo mutation (G434V) in the frizzled class receptor 2 (FZD2) gene in a patient with distinct facial features including hypertelorism, bilateral cleft lip/palate, short nose with a broad nasal bridge, microretrognathia, and bilateral shortness of the upper limbs, first metacarpal bones, and middle phalanges of the 5th digits. The findings of our patient were compared to an autosomal dominant omodysplasia (OMOD2) family with FZD2 mutation reported in the literature. OMOD2 is a rare skeletal dysplasia and characterized by facial dysmorphism and shortness of the upper extremities and first metacarpal bones...
November 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/29224249/pili-annulati-in-a-case-of-rothmund-thomson-syndrome-with-a-novel-frameshift-mutation-in-recql4
#3
B Bhoyrul, H Lindsay, R Robinson, J Stahlschmidt, T Palmer, S Edward, S M Clark
Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive genodermatosis characterised by erythematous patches or plaques and sometimes swelling and blisters, which appear during infancy on photo-exposed sites, usually the cheeks, then progress to poikiloderma. Other features include gastrointestinal disturbance, short stature, sparse scalp hair/eyebrows/eyelashes, skeletal abnormalities, juvenile cataracts, hypogonadism and a susceptibility to malignancy. Two forms have been described: Type I, characterised by poikiloderma, ectodermal dysplasia and juvenile cataracts, negative for the RECQL4 mutation, and Type II, with poikiloderma, congenital bone defects and increased risk of osteosarcoma related to deleterious RECQL4 mutations...
December 10, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/29220510/ciliopathy-associated-mutations-of-ift122-impair-ciliary-protein-trafficking-but-not-ciliogenesis
#4
Mariko Takahara, Yohei Katoh, Kentaro Nakamura, Tomoaki Hirano, Maho Sugawa, Yuta Tsurumi, Kazuhisa Nakayama
The intraflagellar transport (IFT) machinery containing the IFT-A and IFT-B complexes mediates ciliary protein trafficking. Mutations in the genes encoding the six subunits of the IFT-A complex (IFT43, IFT121, IFT122, IFT139, IFT140, and IFT144) are known to cause skeletal ciliopathies, including cranioectodermal dysplasia (CED). As the IFT122 subunit connects the core and peripheral subcomplexes of the IFT-A complex, it is expected to play a pivotal role in the complex. Indeed, we here showed that knockout (KO) of the IFT122 gene in hTERT-RPE1 cells using the CRISPR/Cas9 system led to a severe ciliogenesis defect, whereas KO of other IFT-A genes had minor effects on ciliogenesis but impaired ciliary protein trafficking...
December 6, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/29217808/spectrum-of-disproportionate-short-stature-at-a-tertiary-care-center-in-northern-india
#5
Ankur Singh, Gaurav Pradhan, Rajniti Prasad, Om Prakash Mishra, Seema Kapoor
Forty cases with disproportionate short stature (median age 3.1 y; 24 males) from genetic clinic of Lok Nayak Hospital, Delhi were assessed in this study. Achondroplasia was the commonest (n=9) skeletal dysplasia; conclusive diagnosis was not possible in six children. Molecular confirmation of clinicoradiological phenotype was done in 18 of 40 cases. Genetic study of all achondroplasia cases revealed c. 1138 G>A, p. Gly380Arg mutation in hot spot.
November 15, 2017: Indian Pediatrics
https://www.readbyqxmd.com/read/29212896/the-novel-desmin-mutation-p-glu401asp-impairs-filament-formation-disrupts-cell-membrane-integrity-and-causes-severe-arrhythmogenic-left-ventricular-cardiomyopathy-dysplasia
#6
Francisco José Bermúdez-Jiménez, Víctor Carriel, Andreas Brodehl, Miguel Alaminos, Antonio Campos, Ilona Schirmer, Hendrik Milting, Beatriz Álvarez Abril, Miguel Álvarez, Silvia López-Fernández, Diego García-Giustiniani, Lorenzo Monserrat, Luis Tercedor, Juan Jiménez-Jáimez
Background -Desmin (DES) mutations cause severe skeletal and cardiac muscle disease with heterogeneous phenotypes. Recently, DES mutations were described in patients with inherited arrhythmogenic right ventricular cardiomyopathy/dysplasia (iARVC/D), although their cellular and molecular pathomechanisms are not precisely known. Our aim is to describe clinically and functionally the novel DES-p.Glu401Asp mutation as a cause of inherited left ventricular arrhythmogenic cardiomyopathy/dysplasia (iLVAC/D). Methods -We identified the novel DES mutation p...
December 6, 2017: Circulation
https://www.readbyqxmd.com/read/29198187/unusual-presentation-of-prune-belly-syndrome-a-case-report
#7
Abayneh Girma Demisse, Ashenafi Berhanu, Temesgen Tadesse
BACKGROUND: Prune belly syndrome is a rare congenital malformation of unknown etiology, with the following triad of findings: abdominal muscle wall weakness, undescended testes, and urinary tract abnormalities. In most cases, detection of prune belly syndrome occurs during neonatal or infancy period. In this case report, we describe a 12-year-old boy from Ethiopia with the triad of findings of prune belly syndrome along with skeletal malformations. We are unaware of any previous report of prune belly syndrome in Ethiopia...
December 4, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/29195821/early-implant-placement-for-a-patient-with-ectodermal-dysplasia-thirteen-years-of-clinical-care
#8
Lisa A Knobloch, Peter E Larsen, Paola C Saponaro, Emilie L'Homme-Langlois
Patients with ectodermal dysplasia have abnormalities of 2 or more structures that originate from the ectoderm. The oral manifestations often include the congenital absence of teeth and malformed teeth. This clinical report describes the interdisciplinary care from childhood through the definitive dental rehabilitation completed at skeletal maturation to replace the missing teeth in a patient with ectodermal dysplasia. Treatment began at 9 years of age with an implant-assisted mandibular overdenture to improve function and replace the missing mandibular teeth...
November 29, 2017: Journal of Prosthetic Dentistry
https://www.readbyqxmd.com/read/29191498/a-report-of-three-families-with-fbn1-related-acromelic-dysplasias-and-review-of-literature-for-genotype-phenotype-correlation-in-gelophysic-dysplasia
#9
S W Cheng, Ho-Ming Luk, YoYo W Y Chu, Yuet-Ling Tung, Elanie Yin-Wah Kwan, Ivan Fai-Man Lo, Brian Hon-Yin Chung
Acromelic dysplasia is a heterogeneous group of rare skeletal dysplasias characterized by distal limb shortening. Weill-Marchesani syndrome (WMS), Geleophysic dysplasia (GD) and Acromicric dysplasia (AD) are clinically distinct entities within this group of disorders and are characterized by short stature, short hands, stiff joints, skin thickening, facial anomalies, normal intelligence and skeletal abnormalities. Mutations of the Fibrillin-1 (FBN1) gene have been reported to cause AD, GD and related phenotypes...
November 27, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29178448/expanding-the-clinical-spectrum-of-phenotypes-caused-by-pathogenic-variants-in-plod2
#10
Gabriela Ferraz Leal, Gen Nishimura, Ulrika Voss, Débora Romeo Bertola, Eva Åström, Johan Svensson, Guilherme Lopes Yamamoto, Anna Hammarsjö, Eva Horemuzova, Nikos Papadiogannakis, Erik Iwarsson, Giedre Grigelioniene, Emma Tham
Osteogenesis imperfecta (OI) is a strikingly heterogeneous group of disorders with a broad range of phenotypic variations. It is also one of the differential diagnoses in bent bone dysplasias along with campomelic dysplasia and thanatophoric dysplasia and can usually be distinguished by decreased bone mineralization and bone fractures. Bent bone dyplasias also include syndromes such as kyphomelic dysplasia [MIM:211350] and mesomelic dysplasia Kozlowski-Reardon [MIM249710], both of which have been under debate regarding whether or not they are a real entity or simply a phenotypic manifestation of another dysplasia including OI...
November 27, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/29176355/what-is-the-chance-that-a-patella-dislocation-will-happen-a-second-time-update-on-the-natural-history-of-a-first-time-patella-dislocation-in-the-adolescent
#11
Gerd Seitlinger, Hannah N Ladenhauf, Guido Wierer
PURPOSE OF REVIEW: Patellar instability occurs mainly in young patients and shows a high incidence of concomitant cartilage injuries. Recently there has been a strong attempt to identify risk factors and enhance imaging techniques to detect patients with an increased risk for recurrent patella dislocation.We describe current findings on factors associated with recurrent patella dislocation in the adolescent. RECENT FINDINGS: Trochlear dysplasia, patellar height, patellar tilt, tibial tuberosity-trochlear groove distance, skeletal maturity, and history of contralateral patellar dislocation are well known significant risk factors for recurrence in adolescent patients...
November 14, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/29174089/uncommon-runs-of-homozygosity-disclose-homozygous-missense-mutations-in-two-ciliopathy-related-genes-spag17-and-wdr35-in-a-patient-with-multiple-brain-and-skeletal-anomalies
#12
Carlos Córdova-Fletes, Luis E Becerra-Solano, Martha M Rangel-Sosa, Ana María Rivas-Estilla, Kame Alberto Galán-Huerta, Rocío Ortiz-López, Augusto Rojas-Martínez, Clara I Juárez-Vázquez, José E García-Ortiz
We describe a patient severely affected with multiple congenital anomalies, including brain malformations and skeletal dysplasia suggestive of cranioectodermal dysplasia (CED) ciliopathy, who unusually carries several homozygosity tracts involving homozygous missense mutations in SPAG17 (exon 8; c.1069G > C; p.Asp357His) and WDR35 (exon 13; c.1415G > A; p.Arg472Gln) as revealed by homozygosity mapping and next generation sequencing. SPAG17 is essential for the function and structure of motile cilia, while WDR35 belongs to the same intraflagellar transport (IFT) gene family whose protein products are part of functional IFT A and B complexes...
November 23, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29170271/temporal-lobe-malformations-in-achondroplasia-expanding-the-brain-imaging-phenotype-associated-with-fgfr3-related-skeletal-dysplasias
#13
S A Manikkam, K Chetcuti, K B Howell, R Savarirayan, A M Fink, S A Mandelstam
Thanatophoric dysplasia, achondroplasia, and hypochondroplasia belong to the fibroblast growth factor receptor 3 (FGFR3) group of genetic skeletal disorders. Temporal lobe abnormalities have been documented in thanatophoric dysplasia and hypochondroplasia, and in 1 case of achondroplasia. We retrospectively identified 13 children with achondroplasia who underwent MR imaging of the brain between 2002 and 2015. All children demonstrated a deep transverse temporal sulcus on MR imaging. Further common neuroimaging findings were incomplete hippocampal rotation (12 children), oversulcation of the mesial temporal lobe (11 children), loss of gray-white matter differentiation of the mesial temporal lobe (5 children), and a triangular shape of the temporal horn (6 children)...
November 23, 2017: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/29165438/our-experience-in-the-surgical-management-of-craniofacial-fibrous-dysplasia-what-has-changed-in-the-last-10-years
#14
V Valentini, A Cassoni, V Terenzi, M Della Monaca, M T Fadda, O Rajabtork Zadeh, I Raponi, A Anelli, G Iannetti
The mainstay of treatment of craniofacial dysplasia (CFD) remains surgery once clinical observation has been excluded. Nevertheless, disagreement remains about the type of surgical intervention (remodelling versus radical resection). The aim of this paper is to present our experience until 2013 comparing CFD management between 1980 and 2002 and between 2003 and 2013 and to propose our surgical algorithm. From January 2003 to December 2013, 41 new patients (18 males and 23 females) with histologically demonstrated CFD presented to our Department...
October 2017: Acta Otorhinolaryngologica Italica
https://www.readbyqxmd.com/read/29161034/dynamic-glycosylation-governs-the-vertebrate-copii-protein-trafficking-pathway
#15
Nathan J Cox, Gokhan Unlu, Brittany J Bisnett, Thomas R Meister, Brett Condon, Peter M Luo, Tim J Smith, Michael Hanna, Abhishek Chhetri, Erik J Soderblom, Anjon Audhya, Ela W Knapik, Michael Boyce
The COPII coat complex, which mediates secretory cargo trafficking from the endoplasmic reticulum, is a key control point for subcellular protein targeting. Because misdirected proteins cannot function, protein sorting by COPII is critical for establishing and maintaining normal cell and tissue homeostasis. Indeed, mutations in COPII genes cause a range of human pathologies, including cranio-lenticulo-sutural dysplasia (CLSD), which is characterized by collagen trafficking defects, craniofacial abnormalities and skeletal dysmorphology...
November 21, 2017: Biochemistry
https://www.readbyqxmd.com/read/29159672/patellar-tracking-should-be-taken-into-account-when-measuring-radiographic-parameters-for-recurrent-patellar-instability
#16
Si Heng Sharon Tan, Mazen M Ibrahim, Zhaojie Joel Lee, Yen Kit Michael Chee, James H Hui
PURPOSE: To date, many radiographic parameters on patellar instability have their measurements taken statically, and have not been studied in various degrees of flexion according to the patellar tracking. There are also limited data regarding the use of these parameters in predicting recurrent patellar dislocation. The current study aims to review the radiographic parameters of the patellofemoral joint in different degrees of knee flexion and to correlate them with the presence of recurrent instability...
November 20, 2017: Knee Surgery, Sports Traumatology, Arthroscopy: Official Journal of the ESSKA
https://www.readbyqxmd.com/read/29158687/novel-mutation-of-fkbp10-in-a-pediatric-patient-with-osteogenesis-imperfecta-type-xi-identified-by-clinical-exome-sequencing
#17
Harvy Mauricio Velasco, Jessica L Morales
Osteogenesis imperfecta (OI) is a hereditary disease characterized by bone fragility caused by mutations in the proteins that support the formation of the extracellular matrix in the bone. The diagnosis of OI begins with clinical suspicion, from phenotypic findings at birth, low-impact fractures during childhood or family history that may lead to it. However, the variability in the semiology of the disease does not allow establishing an early diagnosis in all cases, and unfortunately, specific clinical data provided by the literature only report 28 patients with OI type XI...
2017: Application of Clinical Genetics
https://www.readbyqxmd.com/read/29158412/induced-gnas-r201h-expression-from-the-endogenous-gnas-locus-causes-fibrous-dysplasia-by-up-regulating-wnt-%C3%AE-catenin-signaling
#18
Sanjoy Kumar Khan, Prem Swaroop Yadav, Gene Elliott, Dorothy Zhang Hu, Ruoshi Xu, Yingzi Yang
Fibrous dysplasia (FD; Online Mendelian Inheritance in Man no. 174800) is a crippling skeletal disease caused by activating mutations of the GNAS gene, which encodes the stimulatory G protein Gαs FD can lead to severe adverse conditions such as bone deformity, fracture, and severe pain, leading to functional impairment and wheelchair confinement. So far there is no cure, as the underlying molecular and cellular mechanisms remain largely unknown and the lack of appropriate animal models has severely hampered FD research...
November 20, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29154842/delay-in-an-eating-disorder-diagnosis-the-reason-was-a-shox
#19
Amy B Middleman, Sara Reed, Kelly A Curran
BACKGROUND: Patients' underlying medical conditions may impact the presentation and progression of an eating disorder. CASE: We describe a patient with an undiagnosed, rare, genetic skeletal dysplasia with effects on body mass index that likely led to body image distortion and delayed the diagnosis of an eating disorder. SUMMARY: It is critical to assess disordered eating fully in the context of each patient's clinical status.
November 14, 2017: Journal of Pediatric and Adolescent Gynecology
https://www.readbyqxmd.com/read/29150894/unique-association-of-hypochondroplasia-with-craniosynostosis-and-cleft-palate-in-a-mexican-family
#20
Ariadna González-Del Angel, Alan Caro-Contreras, Miguel Angel Alcántara-Ortigoza, Sandra Ramos, Roberto Cruz-Alcívar, Paola Moyers-Pérez
Hypochondroplasia (HCH) is a skeletal dysplasia caused by an abnormal function of the fibroblast growth factor receptor 3. Although believed to be relatively common, its prevalence and phenotype are not well established owing to its clinical, radiological, and genetic heterogeneity. Here we report on a molecularly proven HCH family with an affected father and two children. The siblings (male and female) with HCH also had craniosynostosis and cleft palate, respectively. The present report supports the conclusion that the full clinical spectrum of HCH is not completely delineated...
November 17, 2017: American Journal of Medical Genetics. Part A
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