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626 Possible Causes for Desbuquois Dysplasia, Osteoporosis

  • Calvarial Doughnut Lesions - Bone Fragility Syndrome

    Desbuquois Dysplasia ; 48. gPAPP Dysplasia ; 49. Pseudodiastrophic Dysplasia ; 50.[amazon.de] New chapters on skeletal dysplasias, the genetics of osteoporosis, radiological imaging of bone and a practical approach to a child with recurrent fractures are included.[books.google.com] […] disease and reference values Covers both the physiology of bone and mineral homeostasis in children and diseases in one book Inhalt Chapter 18 The Spectrum of Pediatric Osteoporosis[books.google.de]

  • Winchester Syndrome

    dysplasia XYLT1 Desbuquois dysplasia type 2[skeldys.org] Phenotype Torg syndrome (includes NAO syndrome): multiple, painless, subcutaneous nodules (interphalangeal joints, knees, feet, elbows, pretibial), mild to moderate osteoporosis[iofbonehealth.org] On the basis of usefulness of pamidronate in conditions with osteoporosis, we hypothesized that the drug will improve osteolysis and/or osteoporosis in this condition.[ncbi.nlm.nih.gov]

  • Bruck Syndrome

    dysplasia XYLT1 Desbuquois dysplasia type 2[skeldys.org] The main features are osteoporosis, bowing of the long bones, scoliosis due to vertebral deformities, and congenital joint contractures.[ncbi.nlm.nih.gov] The main features are osteoporosis, long bone bowing and scoliosis due to vertebral deformities and congenital joint contractures.[ncbi.nlm.nih.gov]

  • Cole-Carpenter Syndrome

    Desbuquois Dysplasia 48. gPAPP Dysplasia 49. Pseudodiastrophic Dysplasia 50.[oupcanada.com] The panel diagnostics request form (German) for osteogenesis imperfecta and osteoporosis is available here.[humangenetik.uk-koeln.de] Dyssegmental dysplasia group 7.分節異常骨異形成症 Dyssegmental dysplasia (Silverman-Handmaker type) 分節異常骨異形成症(Silverman-Handmaker型) Dyssegmentaldysplasia (Rolland-Desbuquois type)[normanet.ne.jp]

  • Skeletal Dysplasia

    Abstract We report a boy with Desbuquois dysplasia type 1.[ncbi.nlm.nih.gov] Moreover, this article illustrates how the study of rare diseases can inform understanding and therapeutic developments for common diseases such as osteoporosis.[ncbi.nlm.nih.gov] Denosumab, a monoclonal antibody that inhibits RANKL, is a potent and effective treatment for pathological processes involving bone resorption, such as osteoporosis and different[analesdepediatria.org]

  • X-Linked Osteoporosis with Fractures

    SLC26A2 Sulfate transporter 2 (S26A2) 5q32 159, 160 Desbuquois dysplasia; DBQD CANT1 Soluble calcium-activated nucleotidase 1 (CANT1) 17q25.3 161, 162 Torg-winchester syndrome[intechopen.com] […] formation of filamentous actin (F-actin) bundles, appears to be important in human bone health, on the basis of pathogenic variants in PLS3 in five families with X-linked osteoporosis[ncbi.nlm.nih.gov] […] epiphysealis hemimelica Dysplasia of head of femur, Meyer type Dysplastic cortical hyperostosis Dyssegmental dysplasia, Rolland-Desbuquois type Dyssegmental dysplasia, Silverman-Handmaker[se-atlas.de]

  • Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum

    Desbuquois Dysplasia Part D: Guanine Nucleotide-binding Proteins 181. Extracellular Matrix and Signaling during Development 182.[oupjapan.co.jp] Phenotype Torg syndrome (includes NAO syndrome): multiple, painless, subcutaneous nodules (interphalangeal joints, knees, feet, elbows, pretibial), mild to moderate osteoporosis[iofbonehealth.org] ., "XYLT1 Mutations in Desbuquois Dysplasia Type 2", AMERICAN JOURNAL OF HUMAN GENETICS, vol.94, pp.405-414, 2014 Gunes N., Cengiz F.B., Duman D., Dervisoglu S., Tekin M.,[aves.istanbul.edu.tr]

  • Spondyloepimetaphyseal Dysplasia Type SPONASTRIME

    (Spondyloepiphyseal dysplasia, Rolland - Desbuquois dysplasia, Wolcott-Rallisson syndrome, Dyggve-Melchior-Clausen syndrome) Heterogeneous group of rare disorders, characterized[sites.uclouvain.be] There are no life-threatening causes of osteoporosis . However, complications resulting from untreated osteoporosis are common.[wikidoc.org] […] conditions: Desbuquois dysplasia Desbuquois dysplasia with short metacarpals and elongated phalanges Desbuquois dysplasia type 2 Pseudodiastrophic dysplasia SEMD with joint[emedicine.medscape.com]

  • Parastremmatic Dwarfism

    ACP5 Spondyloenchondrodysplasia with immune dysregulation B3GALT6 Ehlers-Danlos syndrome, Spondyloepimetaphyseal dysplasia with joint laxity CANT1 Desbuquois dysplasia CHST3[genda.com.ar] […] inheritance - Bowed diaphysis / diaphyses / long bones - Epiphyseal anomaly - Genu valgum - Kyphosis - Lack / delayed ossification of spine / vertebrae - Metaphyseal anomaly - Osteoporosis[csbg.cnb.csic.es] Scoliosis and generalized osteoporosis with compression fractures can be seen (Smith 1967).[rrnursingschool.biz]

  • Metaphyseal Acroscyphodysplasia

    , Autosomal Dominant Cystinosis, Nephropathic Desbuquois Dysplasia 1 Desbuquois Dysplasia 2 Dyssegmental Dysplasia, Rolland-Desbuquois Type Fibrochondrogenesis 2 Fibrodysplasia[familydiagnosis.com] Juvenile osteoporosis is osteoporosis in children and adolescents.Osteoporosis is rare in children and adolescents.[checkrare.com] Desbuquois Dysplasia 48. gPAPP Dysplasia 49. Pseudodiastrophic Dysplasia 50.[amazon.it]

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