Relevant bibliographies by topics / Skeletal Dysplasie

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Academic literature on the topic 'Skeletal Dysplasie'

Author: Grafiati
Published: 11 March 2023

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Journal articles on the topic "Skeletal Dysplasie"

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Sahoo, Jagannatha, P. Hemanta Kumar, and G. Jagadeesh. "An Interesting Form of Osteochondrodystrophy–A Case Report of a Family." Indian Journal of Physical Medicine and Rehabilitation 23, no. 1 (2012): 29–31. http://dx.doi.org/10.5005/ijopmr-23-1-29.

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Abstract A 12-year-old boy presented with progressive increasing deformity of both knee joints since last 10 years. The radiograph of femor, tibia and phalanges showed different dysplastic changes of epiphysis. It showed a different skeletal dysplastic nature to multiple epiphysial dysplasias. Silfverskiöld described similar types of skeletal dysplasia.
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Sasikumar, Chinnu, Ketaki Utpat, Unnati Desai, and Jyotsna M. Joshi. "Acromesomelic Dysplasia with Interstitial Lung Disease: A Unique Association." International Journal of Recent Surgical and Medical Sciences 04, no. 01 (January 2018): 029–31. http://dx.doi.org/10.5005/jp-journals-10053-0067.

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ABSTRACTAcromesomelic dysplasia is an extremely uncommon skeletal dysplasia with an autosomal recessive inheritance. It is characterized by a constellation of skeletal anomalies. Respiratory impediments have been sporadically reported earlier in various skeletal dysplasias. However, respiratory affection in acromesomelic dysplasia has not been elucidated earlier. We herein report a case of acromesomelic dysplasia associated with interstitial lung disease (ILD). Diagnosis of acromesomelic dysplasia was based on radiographs of whole skeleton.
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Gucev, Z., G. Kalcev, N. Laban, Z. Bozinovski, N. Popovski, A. Saveski, B. Daskalov, D. Plaseska-Karanfilska, and V. Tasic. "Characteristic diagnostic clues of metatropic dysplasia: The lumbothoracic humpback with dumbbell appearance of the long bones." Balkan Journal of Medical Genetics 21, no. 2 (December 31, 2018): 35–38. http://dx.doi.org/10.2478/bjmg-2018-0025.

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Abstract Metatropic dysplasia (MD) is a rare skeletal dysplasia associated with heterozygous mutations in the TRPV4 gene. We describe a 28-month-old boy with knock-knees referred for metabolic investigation suspected of carrying vitamin D-resistant rickets. He has received regular vitamin D prophylaxis at the usual dose. Laboratory investigations revealed normal values for calcium, phosphorus and alkaline phosphatase. He was short (-3.5 SDS), his mental development was normal, and he started to walk at the age of 22 months. The diagnostic clue for the diagnosis of metatropic dysplasia was the presence of the hump back in the upper lumbar and lower thoracic vertebrae, in addition to a long and narrow chest. An X-ray survey of the skeleton revealed platyspondyly, dysplastic metaphyses with dumbbell appearance of the long bones, kyphoscoliosis, and narrow and elongated thorax with short ribs. This is the first patient with MD in the Republic of Macedonia. Knock-knees were the cause of his referral, as a peculiarity of his phenotype. The very presence of the hump back, and the dumbbell appearance of the long bones distinguished the MD from other bone dysplasias with similar characteristics. We believe that the presence of those two features can shorten the path to accurate diagnosis in the crowded field of overlapping skeletal dysplasias. The diagnosis of MD in this patient was further confirmed by the discovery of the mutation c.2396C>T; p.Pro799Leu (P799L) of the TRPV4 gene.
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Kapoor, Nikhil, and Vandana Chaddha. "Fetal Skeletal System." Donald School Journal of Ultrasound in Obstetrics and Gynecology 4, no. 4 (2010): 391–403. http://dx.doi.org/10.5005/jp-journals-10009-1159.

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ABSTRACT The prevalence of skeletal dysplasias is between 1 and 2000, and 1 and 4000 live births. While here are over 200 skeletal dysplasias approximately four disorders comprise 70% of the total: Achondroplasia, thanatophoric dysplasia, osteogenesis imperfecta, and achondrogenesis. The appropriate identification of lethal skeletal dysplasia is important not only for current pregnancy management, but also for genetic counseling concerning future pregnancies. Detection of skeletal dysplasias is usually possible by prenatal ultrasound, an accurate specific diagnosis is possible by radiologic, pathologic and molecular genetic examination. A total body ultrasound approach should include assessment of the following: Limbs, long bones and extremities, bone mineralization, any joint contractures, joint dislocations, fetal calvarium, spine and thorax.
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Kim, Hwa Young, and Jung Min Ko. "Clinical management and emerging therapies of FGFR3-related skeletal dysplasia in childhood." Annals of Pediatric Endocrinology & Metabolism 27, no. 2 (June 30, 2022): 90–97. http://dx.doi.org/10.6065/apem.2244114.057.

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Skeletal dysplasia is a diverse group of disorders that affect bone development and morphology. Currently, approximately 461 different genetic skeletal disorders have been identified, with over 430 causative genes. Among these, fibroblast growth factor receptor 3 (FGFR3)-related skeletal dysplasia is a relatively common subgroup of skeletal dysplasia. Pediatric endocrinologists may encounter a suspected case of skeletal dysplasia in their practice, especially when evaluating children with short stature. Early and accurate diagnosis of FGFR3-related skeletal dysplasia is essential for timely management of complications and genetic counseling. This review summarizes 5 representative and distinct entities of skeletal dysplasia caused by pathogenic variants in FGFR3 and discusses emerging therapies for FGFR3-related skeletal dysplasias.
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Rama, Gabriel, Wendy K. Chung, Christopher M. Cunniff, and Usha Krishnan. "Rapidly progressive mitral valve stenosis in patients with acromelic dysplasia." Cardiology in the Young 27, no. 4 (January 12, 2017): 797–800. http://dx.doi.org/10.1017/s1047951116002006.

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AbstractAcromelic dysplasias are a group of skeletal dysplasias characterised by short-limbed short stature with other distinctive phenotypic features including small hands and feet and stiff joints. Geleophysic dysplasia is an acromelic dysplasia that is associated with characteristic facial features, progressive cardiac valvular thickening, and tracheal stenosis. Owing to overlapping clinical features with other types of short-limbed skeletal dysplasias, it is important to make a precise diagnosis as they have different cardiac morbidity and mortality. We present the cases of three patients with geleophysic dysplasia and progressive mitral valve disease to emphasise the natural history of this disorder and provide guidance regarding cardiac health supervision in these individuals.
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Piróg, Katarzyna A., and Michael D. Briggs. "Skeletal Dysplasias Associated with Mild Myopathy—A Clinical and Molecular Review." Journal of Biomedicine and Biotechnology 2010 (2010): 1–13. http://dx.doi.org/10.1155/2010/686457.

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Musculoskeletal system is a complex assembly of tissues which acts as scaffold for the body and enables locomotion. It is often overlooked that different components of this system may biomechanically interact and affect each other. Skeletal dysplasias are diseases predominantly affecting the development of the osseous skeleton. However, in some cases skeletal dysplasia patients are referred to neuromuscular clinics prior to the correct skeletal diagnosis. The muscular complications seen in these cases are usually mild and may stem directly from the muscle defect and/or from the altered interactions between the individual components of the musculoskeletal system. A correct early diagnosis may enable better management of the patients and a better quality of life. This paper attempts to summarise the different components of the musculoskeletal system which are affected in skeletal dysplasias and lists several interesting examples of such diseases in order to enable better understanding of the complexity of human musculoskeletal system.
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Sasaki-Adams, Deanna M., Jeffrey W. Campbell, Gela Bajelidze, Marcelo C. Assis, William G. Mackenzie, and Ann M. Ritter. "Level of the conus in pediatric patients with skeletal dysplasia." Journal of Neurosurgery: Pediatrics 5, no. 5 (May 2010): 455–59. http://dx.doi.org/10.3171/2009.12.peds09364.

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Object Skeletal dysplasias are a heterogeneous group of disorders that affect bone development and can result in reduced vertebral body growth and short stature. The level of the conus medullaris is unknown in this population. The purpose of this review was to determine the level of the conus in a population of pediatric patients with skeletal dysplasia. Methods A retrospective chart review of a 7-year period was undertaken at a tertiary care pediatric hospital to identify patients in whom skeletal dysplasia had been diagnosed. Radiographs and MR imaging studies were evaluated to discern the level of the conus with respect to the bony vertebral column. Results Four hundred sixty-seven patients with skeletal dysplasia were identified. One hundred eleven patients had quality MR images. Forty-seven different skeletal dysplasias were observed. The mean conus level was found at the L-1 vertebral body. No difference was noted with respect to the age of the patients or the type of skeletal dysplasia. Two patients (1.7%) had a conus level lower than L-2. Conclusions Skeletal dysplasia leads to abnormal bone formation and can result in short stature. The location of the conus with respect to the vertebral bodies appears to be stable at the L-1 level regardless of patient age or the type of skeletal dysplasia involved. However, the appearance of a low-level conus and associated tethered cord syndrome may be slightly increased in this population.
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Subbarao, K. "Skeletal Dysplasia (Sclerosing dysplasias – Part I)." Nepalese Journal of Radiology 3, no. 2 (January 15, 2014): 1–10. http://dx.doi.org/10.3126/njr.v3i2.9603.

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Marchini, Marta, Elizabeth Silva Hernandez, and Campbell Rolian. "Morphology and development of a novel murine skeletal dysplasia." PeerJ 7 (July 4, 2019): e7180. http://dx.doi.org/10.7717/peerj.7180.

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Background Limb bones develop and grow by endochondral ossification, which is regulated by specific cell and molecular pathways. Changes in one or more of these pathways can have severe effects on normal skeletal development, leading to skeletal dysplasias. Many skeletal dysplasias are known to result from mis-expression of major genes involved in skeletal development, but the etiology of many skeletal dysplasias remains unknown. We investigated the morphology and development of a mouse line with an uncharacterized mutation exhibiting a skeletal dysplasia-like phenotype (Nabo). Methods We used µCT scanning and histology to comprehensively characterize the phenotype and its development, and to determine the developmental stage when this phenotype first appears. Results Nabo mice have shorter limb elements compared to wildtype mice, while clavicles and dermal bones of the skull are not affected. Nabo embryos at embryonic stage E14 show shorter limb cartilage condensations. The tibial growth plate in Nabo mice is wider than in wildtype, particularly in the proliferative zone, however proliferative chondrocytes show less activity than wildtype mice. Cell proliferation assays and immunohistochemistry against the chondrogenic marker Sox9 suggest relatively lower, spatially-restricted, chondrocyte proliferation activity in Nabo. Bone volume and trabecular thickness in Nabo tibiae are also decreased compared to wildtype. Discussion Our data suggest that the Nabo mutation affects endochondral ossification only, with the strongest effects manifesting in more proximal limb structures. The phenotype appears before embryonic stage E14, suggesting that outgrowth and patterning processes may be affected. Nabo mice present a combination of skeletal dysplasia-like characteristics not present in any known skeletal dysplasia. Further genomic and molecular analysis will help to identify the genetic basis and precise developmental pathways involved in this unique skeletal dysplasia.
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Dissertations / Theses on the topic "Skeletal Dysplasie"

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Mehawej, Cybel. "Identification de gènes impliqués dans des dysplasies osseuses rares dans des familles libanaises consanguines." Thesis, Paris 5, 2013. http://www.theses.fr/2013PA05T048/document.

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La pratique du mariage entre apparentés au sein de la population libanaise, favorisée par des raisons sociales, religieuses, géographiques et aussi politiques, a vu apparaître des sous-groupes de populations de taille plus ou moins réduite, parfois à la limite d’isolats génétiques. Ceci a engendré une augmentation de la prévalence des maladies autosomiques récessives fréquentes mais aussi et surtout rares. Parmi ces dernières, les chondrodysplasies ont retenu notre attention. Elles sont caractérisées par un retard statural dû à un défaut du processus d’ossification endochondale, qui est responsable de la croissance des os longs. Au cours de ces dernières décennies, plus de 230 gènes responsables d’environ 400 maladies osseuses constitutionnelles ont été identifiés. Cependant, les bases moléculaires d'une centaine de dysplasies osseuses restent, à ce jour, inconnues. L’identification de gènes codant pour des protéines de nature extrêmement variée a contribué à la compréhension du mécanisme complexe d’ossification endochondrale. Mon travail de thèse, réalisé en cotutelle entre l’équipe de recherche « Bases moléculaires et physiopathologiques des chondrodysplasies » de l’hôpital Necker enfants-malades, à Paris en France et l’Unité de Génétique Médicale (UGM) de l’Université Saint-Joseph au Liban, a consisté à identifier des gènes impliqués dans des dysplasies osseuses autosomiques récessives dans quatre familles libanaises consanguines. Dans ce cadre, différentes stratégies ont été adoptées. La première a été une stratégie d’intersection des variations détectées par le séquençage de l’exome de deux patients, atteints d’une forme sévère de dysplasie spondylodysplastique létale et issus de deux familles libanaises consanguines et non apparentées (Familles A et B). Nous avons identifié une mutation homozygote du gène MAGMAS (NM_016069, p.Asn76Asp) (Mitochondria-associated granulocyte macrophage CSF-signaling molecule) à l’origine de la maladie dans les deux familles A et B. MAGMAS est une protéine associée à la mitochondrie et impliquée dans la régulation de l’import actif des protéines vers la matrice mitochondriale. Par immunohistochimie, nous avons montré que MAGMAS est spécifiquement exprimée au niveau de l’os et de la zone hypertrophique du cartilage. MAGMAS, ayant une fonction cruciale pour la survie, est très conservé entre les espèces. Après avoir généré des souches de levures exprimant une copie normale ou mutée du gène humain MAGMAS, nous avons validé l’effet délétère de la mutation p.Asn76Asp, i) sur la croissance des levures, en montrant que les souches portant le gène humain muté présentent un caractère thermosensible, ii) sur la fonction d’import des protéines vers la matrice mitochondriale, qui est altérée dans les souches mutées et iii) sur la stabilité de la protéine. Nous avons également observé un effet de la mutation sur la morphologie des mitochondries et des peroxysomes des cellules de levures, suggérant une induction de l’autophagie dans les souches de levures portant la mutation p.Asn76Asp. L’identification de mutations de MAGMAS dans une dysplasie osseuse sévère, permet d’attribuer à cette protéine un rôle spécifique dans le processus complexe d’ossification endochondrale. La deuxième stratégie a été une combinaison, au sein d’une même famille, d’une stratégie de cartographie par homozygotie et du séquençage de l’exome d’un seul patient. Cette approche a été utilisée dans une famille consanguine avec 3 enfants atteints porteurs d’une dysplasie rhizomélique (Famille C). Nous avons identifié une mutation homozygote du gène NWD1 (NACHT and WD repeat domain containing 1) (NM_001007525, p.Cys1376Tyr) responsable de la maladie dans cette famille C. Ce gène code pour une protéine ayant des domaines WD répétés qui lui confèrent un rôle dans divers mécanismes comme la transduction de signal, la régulation de la transcription, le transport vésiculaire et le contrôle du cycle cellulaire. (...)
Social, religious, geographic and political reasons have favored the consanguineous marriage in the Lebanese population. This led to an increase in the prevalence of autosomal recessive disorders, especially the rare entities including chondrodysplasias. This group of diseases is due to an impairment of the endochondral ossification process. Causative mutations have now been identified in over 230 different genes in more than 400 unique skeletal phenotypes. However, the genetic basis of over 100 different entities remains to be determined. My PhD research project, held between the research group « Bases moléculaires et physiopathologiques des chondrodysplasies » of Necker enfants-malades hospital (INSERM U781, PARIS, France) and the Medical Genetics Unit of Saint-Joseph University (Lebanon), aims to identify genes involved in autosomal recessive skeletal dysplasias in four consanguineous Lebanese families. Different strategies were carried out: the first consists in overlapping data from whole exome sequencing of two patients affected by a new lethal type of spondylodysplastic dysplasia and issued from two consanguineous unrelated Lebanese families (Families A and B). Here, we report a homozygous missense mutation in the Mitochondria-associated granulocyte macrophage CSF-signaling gene (MAGMAS: NM_016069, p.Asn76Asp) in this severe skeletal dysplasia. MAGMAS, also referred to as PAM16, is a mitochondria-associated protein, involved in pre-proteins import into mitochondria and essential for cell growth and development. We demonstrate that MAGMAS is expressed in trabecular bone and cartilage at early developmental stages underlining its specific role in skeletogenesis. We also give strong evidence of the deleterious effect of the identified mutation on the stability of the protein, its in-vivo activity and the viability of yeast strains. We also show that the mutation is able to induce autophagy in yeast cells. Reporting deleterious MAGMAS mutation in a skeletal dysplasia supports a key and specific role for this mitochondrial protein in ossification. Additional studies would be of interest to further understand the specific role of magmas in ossification. The second strategy was to combine, in a consanguineous family, homozygosity mapping with whole exome sequencing of one of the patients. This strategy was undertaken in family C with 3 patients affected by a rhizomelic dysplasia. It allowed us to identify a homozygous missense mutation in the NWD1 gene (NACHT and WD repeat domain containing 1: NM_001007525, p.Cys1376Tyr) as responsible for the skeletal dysplasia in this family. NWD1 belongs to a large group of WD-repeat domain-containing proteins that are involved in different physiological mechanisms such as signal transduction, transcription regulation, vesicular transport and cell cycle control. (...)
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Tinschert, Sigrid. "Zur Klinik und Genetik von Skelettdysplasien mit Modellierungsstörungen, Hyperostose und Sklerose." Doctoral thesis, Humboldt-Universität zu Berlin, Medizinische Fakultät - Universitätsklinikum Charité, 2004. http://dx.doi.org/10.18452/13908.

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Die Homöostase des Knochengewebes wird durch das balancierte Zusammenspiel von Ossifikation und Resorption gewährleistet. Eine in Relation zur Resorption zu starke Ossifikation führt zur Modellierungsstörung, Hyperostose und Sklerose. Knochenerkrankungen mit diesen Merkmalen werden als Sklerosierende Skelettdysplasien erfasst. Gegenstand der vorliegenden Arbeit sind fünf Skelettdysplasien aus dem Formenkreis der Sklerosierenden Skelettdysplasien: (1) Craniometaphysäre Dysplasie, autosomal dominante Form (MIM #123000); (2) Metaphysäre Dysplasie, Typ Braun-Tinschert (MIM *605946); (3) Caffey-Syndrom (MIM *114000); (4) McCune-Albright-Syndrom (MIM #174800); (5) Melorheostose (MIM 155950). Diese werden auf unterschiedlichen pathogenetischen Ebenen charakterisiert, die den Etappen des Weges entsprechen, der mit der Analyse des Phänotyps beginnt und zu einer Aufklärung des Basisdefektes führt. Die Arbeit gliedert sich ein in die Reihe von Bemühungen, zum molekularen Verständnis von Erkrankungen des Skelettsystems beizutragen.
Homeostasis of bone tissue is maintained by the balanced process of bone formation and resorption. Increased ossification in relation to resorption gives rise to conditions with modelling defects, hyperostosis and sclerosis. Skeletal diseases with these signs are classified as sclerosing bone dysplasias. The work presented here focuses on five skeletal dysplasias from the group of sclerosing bone dysplasias: (1) Craniometaphyseal dysplasia, autosomal dominant form (MIM #123000); (2) Metaphyseal dysplasia, Braun-Tinschert type (MIM *605946); (3) Caffey syndrome (MIM *114000); (4) McCune-Albright syndrome (MIM #174800); (5) Melorheostosis (MIM 155950). They were investigated at different pathogenetic levels that represent different steps on the path from phenotypic characterisation to clarification of the respective basic molecular defect. This work has contributed to our understanding of the molecular basis of skeletal diseases.
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Kinning, Esther. "A clinical and molecular genetic study of the skeletal dysplasia Dyggve Melchior Clausen Syndrome." Thesis, University of Leicester, 2008. http://hdl.handle.net/2381/30381.

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Dyggve Melchior Clausen (DMC) syndrome is an autosomal recessive skeletal dysplasia caused by mutations in the Dymeclin (DYM ) gene on chromosome 18q12-21. Affected individuals have multiple bony abnormalities and mental retardation.;The aim of this work was to elucidate the function of the DYM gene product (DYM) and determine the mechanisms by which mutation of the disease gene lead to cellular and clinical phenotype. Ten affected individuals from eight families were recruited to the study and five DYM mutations identified. These included two novel and complex genomic duplication/repetition events each predicted to result in a truncated transcript.;In-silico analyses of DYM suggest it encodes a transmembrane protein involved in protein sorting and targeting within the cell. The DYM transcript was shown by in-situ hybridization to be expressed at high levels in cartilage and brain, particularly in resting and hypertrophic chondrocytes. Sub-cellular localisation demonstrated the DYM gene product to be located within the endoplasmic reticulum.;Yeast two-hybrid analysis performed to detect DYM interacting proteins identified EGF-containing fibulin-like extracellular matrix protein (EFEMP1) and vacuolar protein sorting protein 25 (VPS25, human homologue known as EAP20). EFEMP1 is an extracellular matrix (ECM) protein and EAP20 a component of the endosomal sorting complex required for transport which acts in transport of transmembrane proteins for export and recycling.;Taken together, these findings indicate that DYM is an endoplasmic reticulum transmembrane protein required for cargo transport through the endosomal compartment. Abnormal chondrocyte differentiation and brain function occur in the absence of adequate functional DYM. Given that cartilage and brain both have substantial requirements for extracellular matrix, it is suggested that DYM contributes to the transport of components of the ECM.
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Stattin, Eva-Lena. "Clinical and genetic studies of three inherited skeletal disorders." Doctoral thesis, Umeå universitet, Medicinsk och klinisk genetik, 2009. http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-22402.

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Mutations in genes of importance for cartilage development may lead to skeletal malformations, chondroskeletal dysfunction and increased susceptibility to degenerative joint disease. Characterization of these mutations and identification of molecular pathways for the corresponding gene products have contributed to our understanding of mechanisms regulating skeletal patterning, endochondral ossification and joint formation. A five generation family segregating autosomal dominant osteochondritis dissecans (OCD) was identified. Affected family members presented with OCD in knees, hips and elbows, short stature, and early osteoarthritis. A genome wide scan and a multipoint linkage analysis identified aggrecan (ACAN) as a prime candidate gene. DNA sequence analysis of the ACAN-gene revealed heterozygosity for a missense mutation (c.6907G>A) in affected subjects, resulting in a p.V2303M substitution in the aggrecan G3 domain C-type lectin. This domain is important for the interaction with other proteins in the cartilage extracellular matrix. To determine the effect of the V2303M substitution on secretion and interaction, we performed binding studies with recombinant mutated and wild type G3 proteins. We found decreased affinity or complete loss of interaction between V2303M aggrecan and fibulin1, fibulin2 and tenascin-R. Analysis of articular cartilage from an affected family member confirmed that V2303M aggrecan is produced and present. In search for gene mutations associated with multiple epiphyseal dysplasia (MED) we considered the ACAN-gene a likely candidate. The ACAN-gene was analysed in 39 individuals with MED and screened negative for mutations in six previously known MED genes. Sequence analysis revealed a heterozygous missense mutation (c.1448G>T) in one adult male and compound heterozygous missense mutations (c.1366T>C and c.836G>A) in a five year old boy with healthy parents, each of them carrier for one of the mutations. A large family segregating autosomal dominant brachymesophalangia and OCD in finger joints was characterised. The clinical presentation in six affected family members was consistent with the diagnosis Brachydactyly type A1, in this family characterized by shortening of the middle phalanges, short ulnar styloid process, flattening of the metacarpal heads and mild osteoarthritis. The condition may be caused by mutations in the Indian hedgehog gene (IHH) or a yet unidentified gene on chromosome 5p13. Sequence analysis of the IHH-gene in affected individuals revealed a novel C to T transition (c.472C>T) leading to a p.158Arg>Cys substitution. Residue 158 in IHH is highly conserved throughout evolution and molecular structure modelling of IHH suggests that the R158C substitution leads to a conformational change at the site of interaction with the IHH-receptor. This supports that the substitution causes Brachydactyly type A1 in this family. In summary, we report on the clinical, radiological and molecular genetic characteristics of the three skeletal disorders OCD, MED and BDA1. Our results provide a novel molecular mechanism in the pathophysiology of familial osteochondritis dissecans confirming the importance of aggrecan C-type lectin for cartilage function. We also show that ACAN-gene mutations may be associated with MED extending the spectrum of skeletal dysplasias associated with the aggrecan gene. Finally, we report on a novel missense mutation in a conserved region of the IHH-gene associated with BDA1.
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Mullan, Lorna A. "Stimulation of intracellular proteolytic degradation as a means of reducing ER stress in a model of skeletal dysplasia." Thesis, University of Manchester, 2015. https://www.research.manchester.ac.uk/portal/en/theses/stimulation-of-intracellular-proteolytic-degradation-as-a-means-of-reducing-er-stress-in-a-model-of-skeletal-dysplasia(b2bb722a-4c5b-4cae-8624-c83aeddd3d2a).html.

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MCDS is an autosomal dominant skeletal dysplasia disorder caused by mutations in collagen X. In most cases, mutations in collagen X result in a misfolded protein which is retained within the ER of hypertrophic chondrocytes, causing increased ER stress. It has previously been demonstrated that increased ER stress causes hypertrophic chondrocytes to de-differentiate in an attempt to avoid the stress. The altered differentiation results in reduced cell hypertrophy and impaired vascular invasion accounting for reduced bone growth. The presence of increased ER stress in hypertrophic chondrocytes is sufficient to cause the MCDS pathology; therefore reducing ER stress may be beneficial in terms of improving the associated pathology. The autophagy enhancing drug carbamazepine (CBZ) has been shown to be capable of reducing ER stress in cells expressing the MCDS-causing p.N617K collagen X mutation. I show in this thesis that CBZ treatment reduced ER stress in HeLa cells transiently expressing a further 3 MCDS-causing collagen X mutations. I have also demonstrated that CBZ treatment induced the degradation of mutant collagen X proteins either through autophagy or proteasomal degradation depending on the nature of the mutation. The drug was tested in vivo using the p.N617K collagen X mouse model of MCDS. In MCDS mice, CBZ reduced the severity of the disease pathology based on histological analyses, restored hypertrophic chondrocyte differentiation toward normal, increased long bone growth rates and decreased the severity of the hip dysplasia. Gene expression analyses on RNA isolated from microdissected hypertrophic chondrocytes revealed that CBZ shifted the pattern of hypertrophic differentiation markers in MCDS mice toward the wild-type pattern, most likely through its stimulation of gene expression associated with intracellular proteolytic pathways. The results presented in this thesis have contributed to the identification of a potential treatment strategy for MCDS- the stimulation of intracellular proteolysis of mutant collagen X. CBZ is FDA approved for the use of epilepsy and bipolar disorder and has a strong safety record in humans. Therefore CBZ could be a potential treatment strategy for MCDS.
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Forouhan, Mitra. "The role of ATF6α and ATF6β in the UPR associated with an ER stress-induced skeletal chondrodysplasia." Thesis, University of Manchester, 2016. https://www.research.manchester.ac.uk/portal/en/theses/the-role-of-atf6alpha-and-atf6-in-the-upr-associated-with-an-er-stressinduced-skeletal-chondrodysplasia(9e26ce51-f188-454c-8ee1-3832845ee014).html.

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Mutations in the COL10A1 gene cause metaphyseal chondrodysplasia type Schmid (MCDS) by triggering ER stress and unfolded protein response (UPR). MCDS is characterised by a mild short-limb dwarfism accompanied by expansion of the cartilage growth plate hypertrophic zone (HZ) and altered differentiation of hypertrophic chondrocytes (HCs). ATF6 is one of the UPR mediators, which exists in two isoforms, ATF6α and ATF6β. Activation and up-regulation of ATF6α was a prominent biochemical sign of ER stress in a mouse model of MCDS, COL10a1 p.N617K. Although ATF6β is induced and activated in response to ER stress in a similar fashion to ATF6α, the role and significance of ATF6β in the pathology of many ER stress-associated diseases including MCDS is unknown. Here we utilized a combination of in vitro and in vivo approaches to define the precise role of each isoform of ATF6 in MCDS.To investigate the functions of ATF6α and ATF6β in vitro, we developed a MCDS cell model system (expressing either the wild type collagen X or one of the following MCDS-causing mutant forms of the protein: p.N617K, G618V, Y598D, and NC1del10) in which the expression of either ATF6α or ATF6β was efficiently silenced using siRNAs. ATF6α knockdown in HeLa cells expressing different MCDS-causing mutations suppressed the increased expression of UPR-associated genes such as BiP leading to an elevated ER stress, based on increased XBP1 splicing and/or ATF4 protein. In contrast, ATF6β knockdown did not significantly affect the mutant collagen X-induced increased expression of UPR-associated genes. Furthermore, the ER stress levels were significantly reduced in the ATF6β knockdown MCDS mutant cells based on the lower levels of XBP1 splicing and/or ATF4 protein detected. We then crossed the ATF6α/β knockout mice models with COL10a1 p.N617K mouse model of MCDS to investigate the function of ATF6α and ATF6β in vivo. Ablation of ATF6α in MCDS mice further- reduced the endochondral bone growth rate, further expanded the growth plate hypertrophic zone, and disrupted differentiation of HCs. Therefore, ATF6α appeared to play a chondroprotective role in MCDS as its deficiency caused an increase in the severity of the disease. Of particular note, the level of ER stress was further increased in the absence of ATF6α in MCDS, based on enhanced activities of PERK and IRE1 signalling pathways in compensation for the ATF6α loss. Paradoxically, ablation of ATF6β in MCDS mice reduced the intracellular retention of collagen X protein, and alleviated the ER stress as judged by the attenuated activities of PERK and IRE1 signalling pathways. The reduced ER stress resulting from deficiency for ATF6β in MCDS mice restored the expression of collagen X mRNA towards normal and improved the differentiation of HCs, causing a mark decrease in the expansion of HZ. The results presented within this thesis greatly increased our understanding of the function of ATF6α and ATF6β and their interplay in the pathogenesis of MCDS. We demonstrated an indispensable beneficiary role for ATF6α but a detrimental role for its closely related isoform, ATF6β, in pathology of MCDS. We also showed that the role of ATF6β should not be ignored. These findings may be used to develop a potential therapeutic strategy for MCDS through targeting and enhancing ATF6α-dependent and/or attenuating/blocking of ATF6β-dependent signalling pathways.
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Hall, Christine Margaret. "The development and evaluation of two computer-based diagnostic aids in the field of inherited skeletal dysplasias and malformation syndromes." Thesis, Imperial College London, 2005. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.419866.

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ZANOLLI, Elena. "Signal transduction of the constitutively activated Fibroblast Growth Factor Receptor 3 (FGFR3)." Doctoral thesis, 2012. http://hdl.handle.net/11562/393922.

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Fibroblast Growth Factor Receptor 3 (FGFR3) appartiene alla famiglia dei recettori tirosin-chinasici e ha un ruolo importante come regolatore negativo del processo di ossificazione endocondrale. Mutazioni altamente attivanti di FGFR3 provocano gravi forme di displasie scheletriche. Durante i miei studi ho considerato se l’organizzazione del citoscheletro potesse essere influenzata della mutazione K650M, associata ad una grave acondroplasia con ritardo nello sviluppo e acantosis nigricans (SADDAN). FGFR3-SADDAN è un mutante altamente attivato che si trova accumulato in forma immatura glicosilata di 120kDa nel reticolo endoplasmico (ER). Da questo compartimento intracellulare è in grado di segnalare attraverso una via FRS2 e PLC indipendente e attivare le ERKs. Ci siamo chiesti se questo signalling anomalo dal reticolo endoplasmico potesse avere un ruolo importante nel determinare il fenotipo patologico del recettore. I dati che abbiamo ottenuto indicano che FGFR3-SADDAN recluta PLCPyk2 dal ER. Ciò si traduce in un aumento della fosforilazione di Pyk2 e paxillina, eventi associati alla disorganizzazione dell’actina citoscheletrica. Inoltre, durante il mio lavoro, abbiamo scoperto che abrogando l’interazione FGFR3/PLC, mediante la sostituzione Y754F in FGFR3-SADDAN, il recettore prosegue il suo pathway secretorio e raggiungere la membrana plasmatici, sulla quale è presente nella forma matura di 130kDa, pur rimanendo costitutivamente attivato. Crediamo che PLC giochi un ruolo chiave in quanto, legando FGFR3-SADDAN, impedisce che il recettore completi la sua biosintesi. Noi ipotizziamo che questo accada perchè si forma una “piattaforma” di segnalazione che coinvolge il recettore mutato e permette un signalling anomalo, forzando la permanenza di FGFR3-SADDAN nel reticolo endoplasmico. Questa via di segnalazione anomala dal ER determina inoltre la disorganizzazione delle strutture citoscheletriche suggerendo che questi eventi inducano displasie scheletriche mediate da FGFR3.
Fibroblast growth factor receptor 3 (FGFR3) belong to the tyrosine kinase receptor (RTK) family and plays a pivotal role in skeletal development being a negative regulator of bone growth as target disruption of the mouse FGFR3 gene causes a skeletal overgrowth. Many other mutations located in different domain of FGFR3 have been associated with skeletal diseases with graded severity, in particular gain-of-function mutation affecting the codon 650 within the critical kinase domain of FGFR3. The aim of our study was to investigate, in vitro, on the role by a mutant FGFR3 associated to the severe achondroplasia with developmental delay and achanthosis nigricans (SADDAN) on cytoskeletal organization. The SADDAN mutant revealed the unpaired trafficking of the immature mannose-rich 120kDa SADDAN receptor that remain localized in the ER, and transducers signal in its immature from leading to ERKs activation trough FRS2α and PLCγ-independent pathways. We have questioned whether the intracellular position of FGFR3 signalling has a critical role on the receptor-induced phenotype. Our findings indicate that PLCPyk2, paxillin interact with the immature FGFR3-SADDAN glycomers from the ER. These events are associated to an increased phosphorylation of paxillin/Pyk2 and the perturbed actin cytoskeltal organization. Preventing the PLC/FGFR3 interaction by the Y754F amino acid substitution in FGFR3 results in the failure of both Pyk2 recruitment and paxillin enhanced phosphorylation and restores the receptor full maturation on cell surface. We propose that PLC through its early engagement with the immature FGFR3-SADDAN confers a functional signalling activity to the receptor thus forcing its permanence in the ER. Altogether the data presented herein indicate that the interaction between PLC and the activated receptor in the ER are key events to determine the FGFR3-SADDAN-perturbed cytoskeletal organization and suggest that actin cytoskeleton is a target for the FGFR3-induced skeletal dysplasias.
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Baratang, Nissan Vida. "Exploring the role of fibronectin in spondylometaphyseal dysplasia." Thèse, 2018. http://hdl.handle.net/1866/22270.

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Sousa, Cátia Filipa Pinto. "Skeletal dysplasias information system." Master's thesis, 2012. http://hdl.handle.net/10316/25175.

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O Sistema de Informação SDIS permite o armazenamento e a partilha de dados clínicos e pessoais de pacientes com displasias ósseas, assegurando a confidencialidade da informação. Permite, ainda, guardar informação acerca dos Grupos de Investigação e dos médicos que aí trabalham. O Sistema Esquelético é o sistema biológico cuja principal função é o suporte físico do organismo.As Displasias Ósseas são um grupo heterogéneo de doenças caracterizadas por alterações na forma, no tamanho e na constituição dos ossos e/ou cartilagens. Em 2011, foi feita uma tentativa de implementação desta aplicação, por alunos de Engenharia Informática da Universidade de Coimbra. Devido a um conjunto de falhas detectadas na mesma, esse trabalho apenas serviu de base ao desenvolvido neste novo projecto. A aplicação SDIS acrescenta várias funcionalidades às da primeira tentativa de implementação. De acordo com a arquitetura Cliente/Servidor, o Sistema de informação desenvolvido é composto por uma Base de Dados central, um Sistema gerenciador, uma interface de execução que corre num navegador Web, um Servidor Web e o Cliente da Aplicação.O Modelo em Cascata clássico conduziu a um desenvolvimento sistemático de Software, seguindo uma estratégia sequencial de conclusão de fases. Numa primeira fase a aplicação é utilizada nos três Centros de Investigação portugueses. Caso a sua utilização seja um sucesso, será alargada a outros grupos de investigação no estrangeiro. Palavras-chave "Partilha", "Confidencialidade", "Segurança", "Informação Clínica", "Dados Pessoais", “HTML”, "PHP", "MySQL", "Aplicação Web", "Software", "Displasia Óssea", "Médico", “Investigação
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Books on the topic "Skeletal Dysplasie"

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M, Hall Christine, and Apley A. Graham, eds. Atlas of skeletal dysplasias. Edinburgh: Churchill Livingstone, 1985.

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Kozlowski, Kazimierz, and Peter Beighton. Gamut Index of Skeletal Dysplasias. London: Springer London, 1995. http://dx.doi.org/10.1007/978-1-4471-3492-3.

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Kozlowski, Kazimierz, and Peter Beighton. Gamut Index of Skeletal Dysplasias. London: Springer London, 2001. http://dx.doi.org/10.1007/978-1-4471-0295-3.

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1935-, Lachman Ralph S., ed. Radiology of syndromes, metabolic disorders, and skeletal dysplasias. 4th ed. St. Louis: Mosby, 1996.

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1935-, Lachman Ralph S., and Taybi Hooshang 1919-, eds. Radiology of syndromes, metabolic disorders, and skeletal dysplasias. 3rd ed. Chicago: Year Book Medical Publishers, 1990.

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Peter, Beighton, ed. Gamut index of skeletal dysplasias: An aid to radiodiagnosis. 2nd ed. London: Springer, 1995.

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Spranger, Jürgen W. Bone dysplasias: An atlas of genetic disorders of skeletal development. 3rd ed. Oxford: Oxford University Press, 2012.

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W, Brill Paula, and Poznanski Andrew K. 1931-, eds. Bone dysplasias: An atlas of genetic disorders of skeletal development. 2nd ed. Oxford: Oxford University Press, 2002.

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1919-, Taybi Hooshang, ed. Taybi and Lachman's radiology of syndromes, metabolic disorders, and skeletal dysplasias. 5th ed. Philadelphia: Mosby Elsevier, 2007.

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Parker, James N., and Philip M. Parker. Thanatophoric dysplasia: A bibliography and dictionary for physicians, patients, and genome researchers [to internet references]. San Diego, CA: ICON Health Publications, 2007.

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Book chapters on the topic "Skeletal Dysplasie"

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Alazzawi, Sulaiman, and Kyle James. "Skeletal Dysplasia." In In Clinical Practice, 205–22. London: Springer London, 2016. http://dx.doi.org/10.1007/978-1-4471-6769-3_14.

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Murotsuki, Jun. "Skeletal Dysplasia." In Fetal Morph Functional Diagnosis, 121–35. Singapore: Springer Singapore, 2020. http://dx.doi.org/10.1007/978-981-15-8171-7_9.

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Chong, Alphonsus K. S., Rosalyn P. Flores, and Eng Hin Lee. "Skeletal Dysplasias." In The Pediatric Upper Extremity, 467–82. New York, NY: Springer New York, 2015. http://dx.doi.org/10.1007/978-1-4614-8515-5_21.

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Chong, Alphonsus K. S., Rosalyn P. Flores, and Eng Hin Lee. "Skeletal Dysplasias." In The Pediatric Upper Extremity, 1–20. New York, NY: Springer New York, 2014. http://dx.doi.org/10.1007/978-1-4614-8758-6_21-1.

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Olszewski, Dana. "Skeletal Dysplasias." In Orthopedic Surgery Clerkship, 591–92. Cham: Springer International Publishing, 2017. http://dx.doi.org/10.1007/978-3-319-52567-9_125.

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Olney, Robert C., and Michael B. Bober. "Skeletal Dysplasias." In Pediatric Endocrinology, 175–96. Cham: Springer International Publishing, 2018. http://dx.doi.org/10.1007/978-3-319-73782-9_8.

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Shapiro, Frederic. "Skeletal Dysplasias." In Pediatric Orthopedic Deformities, Volume 1, 255–409. Cham: Springer International Publishing, 2015. http://dx.doi.org/10.1007/978-3-319-20529-8_3.

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Olney, Robert C., and Michael B. Bober. "Skeletal Dysplasias." In Pediatric Endocrinology, 55–72. Totowa, NJ: Humana Press, 2013. http://dx.doi.org/10.1007/978-1-60761-395-4_3.

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Schumacher, Reinhard, Laurie H. Seaver, and Jürgen Spranger. "Skeletal Dysplasias." In Fetal Radiology, 99–183. Berlin, Heidelberg: Springer Berlin Heidelberg, 2010. http://dx.doi.org/10.1007/978-3-642-03560-9_4.

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Crossan, J. F. "Skeletal Dysplasias." In Imaging Techniques in Orthopaedics, 313–23. London: Springer London, 1989. http://dx.doi.org/10.1007/978-1-4471-1640-0_24.

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Conference papers on the topic "Skeletal Dysplasie"

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Jakobsen, Ingrid B., Theodor G. Wyeld, David P. Hansen, and Andreas Zankl. "Visualising A Skeletal Dysplasia Knowledgebase." In International Conference on Medical Information Visualisation - BioMedical Visualisation (MediVis 2007). IEEE, 2007. http://dx.doi.org/10.1109/medivis.2007.21.

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McCormack, Siobhan, Claire Thompson, Kerrie Hennigan, Rizwan Khan, and Niazy Al-assaf. "P71 Skeletal dysplasia- case report of an infant with thanatophoric dysplasia." In Faculty of Paediatrics of the Royal College of Physicians of Ireland, 9th Europaediatrics Congress, 13–15 June, Dublin, Ireland 2019. BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health, 2019. http://dx.doi.org/10.1136/archdischild-2019-epa.426.

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Shelmerdine, S., JC Hutchinson, J. Suich, AD Calder, NJ Sebire, and OJ Arthurs. "104 Novel imaging techniques in skeletal dysplasias: the use of micro-ct." In Great Ormond Street Hospital Conference. BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health, 2017. http://dx.doi.org/10.1136/archdischild-2017-084620.78.

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Wyeld, Theodor, and Andreas Zankl. "3D Visualisation of the Radiological Features of Type II Collagenopathies Associated with Skeletal Dysplasias." In 2008 Fifth International Conference BioMedical Visualization: Information Visualization in Medical and Biomedical Informatics (MEDIVIS). IEEE, 2008. http://dx.doi.org/10.1109/medivis.2008.19.

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Truitt, Brittany A., Judith Gadde, and Ajay Kasi. "Chronic Respiratory Failure, Restrictive Lung Disease, and Skeletal Abnormalities in a Preterm Infant: A Case of Thanatophoric Dysplasia." In AAP National Conference & Exhibition Meeting Abstracts. American Academy of Pediatrics, 2021. http://dx.doi.org/10.1542/peds.147.3_meetingabstract.860.

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Silva, Bruno Custódio, Tainá Alano, Lennon Vidori, Paulo Ricardo Gazzola Zen, and Rafael Fabiano Machado Rosa. "Multiple contractures and their relationship with congenital amyoplasia." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.070.

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Context: Congenital amyoplasia is characterized by contractures (arthrogryposis) involving multiple large joints. Case report: The patient is a couple’s first daughter and no history of similar cases in the family. She was born at term, by cesarean delivery, weighing 3080 grams and with Apgar scores of 8 and 9. Gestational ultrasound revealed fetal akinesia, oligodramnia, and altered fetal skeletal musculature with shortening of the four limbs. During delivery, she suffered a fracture of the right femur. The patient evolved with a delay in neuropsychomotor development. On physical examination, hypotonia, nevus flammeus on the forehead, contractures involving several joints (including fingers, elbows, hips, knees and feet) were observed as well as pits in elbows and knees. Computed tomography scan of the skull showed cortical hypoplasia. Radiographic evaluation showed levoconvex thoracolumbar scoliosis and congenital changes in vertebral bodies of the thoracic spine, and thinning bone structures of the upper limbs. In addition, there were dysplastic acetabular, signs of constriction or tissue band in distal third of the right and middle thighs of the left, intense muscular hypotrophy, thinning of diaphysis of the femurs and echinovirus feet. Abdominal ultrasound and karyotype were normal. Conclusions: The clinical findings were compatible with those of congenital amyoplasia. Fetal akinesia or hypokinesia is a finding widely reported by mothers of children with this condition, as occurred in our case. Therefore, early interventions are very important, in order to avoid, in particular, greatest atrophy of the affected limbs, in addition to osteopenia.
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Reports on the topic "Skeletal Dysplasie"

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Leach, Roland M., Mark Pines, Carol V. Gay, and Shmuel Hurwitz. In vivo and in vitro Chondrocyte Metabolism in Relationship to the Developemnt of Tibial Dyschondroplasia in Broiler Chickens. United States Department of Agriculture, July 1993. http://dx.doi.org/10.32747/1993.7568090.bard.

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Skeletal deformities are a significant financial and welfare problem for the world poultry industry. Tibial dyschondroplasia (TD) is the most prevalent skeletal abnormality found in young broilers, turkeys and ducks. Tibial dyschondroplasia results from a perturbation of the sequence of events in the epiphyseal growth plate, the tissue responsible for longitudinal bone growth. The purpose of this investigation was to test the hypothesis that TD was the result of a failure of growth plate chondrocytes to differentiate and express the chemotactic molecules required for cartilage vascularization. In this investigation in situ hybridization and immunocytochemical techniques were used to study chondrocyte gene products associated with cartilage maturation and vascularization such as osteopontin, osteonectin, type X collagen, and alkaline phosphatase. All markers were present in the growth plate tissue anter or to the TD lesion but were greatly diminished in the TD lesion. Thus, rather than not acquiring the markers for hypertrophy, it appears that the growth plate chondrocytes reach a certain stage of hypertrophy and then de-differentiate into cells which resemble chondrocytes in the prehypertrophic zone. Similar patterns were observed in all TD tissues examined whether the lesions were spontaneous or induced by dietary treatments or genetic selection. The decrease in gene expression can at least be partially explained by the fact that many of the dysplastic chondrocytes show classic signs of apoptosis. These results provide an explanation for the observation that a variety of genes show reduced expression in the TD lesion when examined by in situ hybridization. This would suggest that future research should focus on the earliest detectable stages in the development of TD and examine endocrine and autocrine factors which cause chondrocytes to de-differentiate and undergo premature apoptosis.
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