Skeletal Dysplasia
Site-1 protease deficiency causes human skeletal dysplasia due to defective inter-organelle protein trafficking
... has skeletal dysplasia (Supplemental Figure 1A), we reasoned that secretory cells, such as osteoblasts or chondrocytes, might be more susceptible than fibroblasts to decreased S1P ...
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Recurrent c.G1636A (p.G546S) mutation of COL2A1 in a Chinese family with skeletal dysplasia and different metaphyseal changes: a case report
... Case presentation: The proband (III-3) was the second child of the family with skeletal dysplasia. She was 2 years and 3 months old with disproportional short stature, short neck, pectus carinatum, genu ...
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Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia.
... POP1 is a large protein common to the RNase-MRP and RNase-P (RMRP) endoribonucleoprotein complexes. Although its precise function is unknown, it appears to participate in the assembly or stability of both complexes. ...
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Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2
... of skeletal conditions, ranging from early-onset osteoporosis to osteoporosis with skeletal ...in skeletal homeostasis and in bone mineralization. Patients’ skeletal features, bone tissue ...
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Prenatal diagnosis of fetal skeletal dysplasia using targeted next-generation sequencing: an analysis of 30 cases
... temic skeletal abnormalities, allowing for a more com- prehensive and useful prenatal genetic counseling guidance for ...of skeletal dysplasia treatments based on target genes ...common ...
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Semantic interestingness measures for discovering association rules in the skeletal dysplasia domain
... in skeletal dysplasia ...tal dysplasia domain; (ii) secondly, we propose a series of interestingness measures based on semantic similarity metrics using existing ontologies as background knowl- edge; ...
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IQ Measurement in Children With Skeletal Dysplasia
... Although the number of infants studied was small, preschool achondroptastic children, as a group, were functioning intellectually within the normal range and at a similar level to other [r] ...
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Bi-allelic variants in TONSL cause SPONASTRIME dysplasia and a spectrum of skeletal dysplasia phenotypes
... SPONASTRIME dysplasia or a disorder exhibiting many features consistent with SPONASTRIME dysplasia (subjects 6, 7-1, 7-2, and 8), a lack of diagnostic features, such as absent metaphyseal striations ...
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Genetic Causes of Hydrops Fetalis
... of skeletal dysplasia using ultrasound. Greenberg CR, Rimoin DL, Cruber HE, de Sa DJB, Reed M, Lachmann RS. A new autosomal recessive lethal chondrodystrophy with congen- ital hydrops.. [r] ...
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Prenatal manifestation and management of a mother and child affected by spondyloperipheral dysplasia with a C-propeptide mutation in COL2A1: case report
... lethal skeletal dysplasia, Torrance type (PLSD-T) is a rare form of skeletal dysplasia characterized by platyspondyly, brachydactyly and methapyseal ...
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Lethal Developmental Defects: An Overview
... cation, deletions, or duplications), it may not be possible to do chromosomal analysis after termination in many cases as fresh tissue is unavailable as fetus usually sent in formalin. Formalin makes chromosomal analysis ...
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Novel mutations highlight the key role of the ankyrin repeat domain in TRPV4-mediated neuropathy
... Results: Previous studies suggest that neuropathy-causing mutations occur primarily at arginine residues on the convex face of the TRPV4 ankyrin repeat domain (ARD). Further highlighting the key role of this domain in ...
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Clinico-pathogenetic findings and management of chondrodystrophic myotonia (Schwartz-Jampel syndrome): a case report
... exon skipping, and deletions.[3,4] In these patients, mutant Perlecan molecules or reduced amounts of wild- type Perlecan are secreted in the tissue matrix. Functional null mutations in the Perlecan were also found in ...
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Case Report Novel mutation of RUNX2 gene in a patient with cleidocranial dysplasia
... Cleidocranial dysplasia is a rare hereditary skeletal disorder due to heterozygous loss of function mutations in the RUNX2 gene that encodes runt-related transcription factor 2 ...cleidocranial ...
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The clinical and mutational spectrum of B3GAT3 linkeropathy: two case reports and literature review
... a skeletal dysplasia with disproprionate short stature, kyphosis, scoliosis and deformity of the long bones, spatulate distal phalanges, and facial ...
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Radiologic and Pathologic Features of the Transmantle Sign in Focal Cortical Dysplasia: The T1 Signal Is Useful for Differentiating Subtypes
... 17. Boonyapisit K, Najm I, Klem G, et al. Epileptogenicity of focal malfor- mations due to abnormal cortical development: direct electrocortico- graphic-histopathologic correlations.Epilepsia 2003;44:69 –76Medline 18. ...
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RADIATE – Radial Dysplasia Assessment, Treatment and Aetiology: protocol for the development of a core outcome set using a Delphi survey
... treatment of the soft tissues is highly variable. A recent systematic review by our group found that patients suf- fer poor forearm growth and some degree of recurrent radial wrist deviation, whether treated surgically ...
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Esophageal Dysplasia in High Risk Group and Significance of Agnor in Esophageal Dysplasia.
... of dysplasia, a causal association can be established, which can be used as a basis for devising effective screening protocols to pick up cases at an early ...Once dysplasia is documented, it can be ...
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Different clinical presentation and management of temporal bone fibrous dysplasia in children
... Fibrous dysplasia is a slowly progressive benign fibro-osseous disorder that involves one or multiple bones with a unilateral distribution in most ...fibrous dysplasia with temporal bone involvement in ...
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Predicting malignant progression in clinically high risk lesions by DNA ploidy analysis and dysplasia grading
... and dysplasia grading to predict malignant transformation has been determined in oral lesions considered to be at ‘high’ risk on the basis of clinical information and biopsy ...severe dysplasia was 50% (95% ...
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