Bone-dysplasia: Causes & Reasons

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Possible Causes for bone dysplasia

Skeletal Dysplasia

RESULTS: We introduce the design considerations and implementation details of the Bone Dysplasia Ontology. [ncbi.nlm.nih.gov]

The clinical, radiographic, and genetic findings in father and son are consistent with a sclerosing skeletal dysplasia syndrome with similarities to mixed sclerosing bone [ncbi.nlm.nih.gov]

KD is bent-bone skeletal dysplasia that, in contrast to campomelic dysplasia, involves principally the femora with relative sparing of the remainder of the skeleton. [ncbi.nlm.nih.gov]

Melorheostosis

PURPOSE OF REVIEW: Melorheostosis is a rare sclerosing bone dysplasia that affects both cortical bone and adjacent soft tissue structures in a sclerotomal distribution. [ncbi.nlm.nih.gov]

Melorheostosis is a linear bone dysplasia of unknown origin that may be associated with soft-tissue alterations. [ncbi.nlm.nih.gov]

J Bone Joint Surg Br. 1985;67:133–7 PubMed Google Scholar 5. Greenspan A, Azouz EM. Bone dysplasia series melorheostosis: review and update. [link.springer.com]

Fibrous Dysplasia

& JOINTS Atlas_Id 5093 Phylum Bones::Fibrous dysplasia WHO/OMS Classification Bones Note In the major text-books on bone pathology, fibrous dysplasia (FD) is regarded as [atlasgeneticsoncology.org]

It is characterized by deformities and fractures of the bones, endocrine abnormalities including early puberty, and skin hyperpigmentation Fibrous dysplasia of bone affecting [icd9data.com]

Fibrous dysplasia is a disorder where normal bone and marrow is replaced with fibrous tissue, resulting in formation of bone that is weak and prone to expansion. [en.wikipedia.org]

Florid Cemento-Osseous Dysplasia

BACKGROUND: Infection, neoplasia and bone dysplasias cause alteration in bone architecture. [ncbi.nlm.nih.gov]

Key words: Bone dysplasia, Odontogenic tumor Asian J Oral Maxillofac Surg. 2003;15:135-137. Back [asianaoms.org]

They are characterized by a substitution of normal bone for fibrous tissue and metaplastic bone. 1 In 2005, the World Health Organization (WHO) subdivided osseous dysplasia [elsevier.es]

Carpotarsal Osteochondromatosis

dysplasia disorder characterized by abnormal bone proliferation and osteochondromas in the upper and lower limbs.Visit the Orphanet disease page for more resources. [malacards.org]

Orpha Number: 2767 Disease definition Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder characterized by abnormal bone proliferation and osteochondromas [rarediseases.info.nih.gov]

Torrance type Polyostotic fibrous dysplasia Prenatal benign hypophosphatasia Primary bone dysplasia Primary bone dysplasia with decreased bone density Primary bone dysplasia [se-atlas.de]

Facial Dysmorphism-Immunodeficiency-Livedo-Short Stature Syndrome

FILS phenotype was variable but included macrocephaly, recurrent respiratory infections, livedo and telangiectasia, bone dysplasia, short stature, and decreased IgM and IgG [link.springer.com]

The defects found in phagocytes with their respective bone findings have been listed in Table 5. [symbiosisonlinepublishing.com]

[…] regurgitation Holoprosencephaly Aplasia/Hypoplasia of the cerebellum Myelodysplasia Bifid scrotum Relative macrocephaly Nephroblastoma Abnormality of immune system physiology Bone [mendelian.co]

Hip Dysplasia Type Beukes

Orphanet Beukes familial hip dysplasia (BFHD) is a primary bone dysplasia, characterized by premature degenerative arthropathy of the hip. [rarediseases.oscar.ncsu.edu]

Homepage Rare diseases Search Search for a rare disease Hip dysplasia, Beukes type Disease definition Beukes familial hip dysplasia (BFHD) is a primary bone dysplasia, characterized [orpha.net]

In general, skeletal dysplasias are a group of disorders which affect the bone and cartilage. [malacards.org]

Mazabraud Syndrome

Fibrous dysplasia is a benign lesion in intramedullary bone. [bmcendocrdisord.biomedcentral.com]

Bone pain is a common complication of fibrous dysplasia. [en.wikipedia.org]

[…] myxomas monomelic upper limb Mesh terms: Fibrous dysplasia of bone spellingShingle Mazabraud syndrome fibrous dysplasia myxomas monomelic upper limb Mesh terms: Fibrous dysplasia [vufind.uniovi.es]

Cleidocranial Dysplasia

Children's Memorial Hospital Abstract 5 year old female Keywords Cleidocranial dysplasia, dysostosis, clavicle defect, hypoplasia, wormian bones, plain film Publication Date [mirc.luriechildrens.org]

Dynamic Classification of Bone Dysplasias. 30. 5. Salmon, D. D. ( 1944 ). ‘Hereditary cleidocranial dysostosis.’ Radiology. 42, 391. 6. Williams, M. ( 1968 ). [bjp.rcpsych.org]

References Spranger, J., Brill, P., Poznanski, A., BONE DYSPLASIA: An Atlas of Genetic Disorders of Skeletal Development, 2nd Ed., Oxford Press, 2002, 41. [mirc.luriechildrens.org]

Calvarial Doughnut Lesions - Bone Fragility Syndrome

Osteocraniosteosis ; Section XV Dense Bone Dysplasias with Normal Bone Shape ; 94. Blomstrand Dysplasia ; 95. [amazon.de]

Dysplasias 541 Chapter 21 Parathyroid Disorders 557 Chapter 22 Fibrous Dysplasia 589 Chapter 23 Nutritional Rickets 625 Chapter 24 Metabolic Bone Disease in the Neonatal [books.google.de]

Osteocraniosteosis Section XV Dense Bone Dysplasias with Normal Bone Shape 94. Blomstrand Dysplasia 95. [axon.es]

Schwartz-Jampel Syndrome

bone dysplasia and type 2, a rare, more severe form with increased mortality in the neonatal period. [ncbi.nlm.nih.gov]

Schwartz-Jampel syndrome (SJS) is a rare genetic disorder characterised by myotonia and bone dysplasia. [ncbi.nlm.nih.gov]

Type 1A is recognized in childhood and exhibits only moderate bone dysplasia, and type 1B is similar but manifests at birth with more prominent bone dysplasia. [n.neurology.org]

Hereditary Hyperphosphatasia

This monograph is a felicitous combination of a working atlas and a scholarly exposition of the various sclerosing bone dysplasias, considering in detail eighteen major entities [books.google.com]

Keywords Bone Dysplasias Knochendysplasie Knochensklerose Röntgendiagnostik classification radiology Authors and affiliations Peter Beighton 1 Bryan J. Cremin 2 1. [link.springer.com]

These include Caffey disease, oculodento-osseous dysplasia, central osteosclerosis with bamboo hair, fluorosis, osteosclerosis associated with renal disease and mastocytosis [link.springer.com]

Craniometadiaphyseal Dysplasia

This monograph is a felicitous combination of a working atlas and a scholarly exposition of the various sclerosing bone dysplasias, considering in detail eighteen major entities [books.google.de]

[…] corticalis generalisata ( van Buchem syndrome ) intramedullary osteosclerosis melorheostosis metaphyseal dysplasia ( Pyle disease ) mixed sclerosing bone dysplasia Nakamura [radiopaedia.org]

Sclerosing bone dysplasias comprise a heterogeneous group of disorders ( skeletal dysplasias ) united by the presence of sclerosis of one form or another. [radiopaedia.org]

Boomerang Dysplasia

Atelosteogenesis I (AT-I) and Boomerang dysplasia have been described as separate lethal bone dysplasias. [ncbi.nlm.nih.gov]

Abstract Atelosteogenesis I (AT‐I) and Boomerang dysplasia have been described as separate lethal bone dysplasias. [doi.org]

Boomerang dysplasia, atelosteogenesis type 1 and Piepkorn dysplasia are bone dysplasias with an overlapping clinical spectrum characterized by deficient formation and ossification [ncbi.nlm.nih.gov]

McCune-Albright Syndrome

McCune-Albright syndrome is a rare sporadic disease characterized by fibrous bone dysplasia, café-au-lait skin spots and variable hyperfunctional endocrinopathies. [ncbi.nlm.nih.gov]

[…] of bone One of the most common complications of fibrous dysplasia of bone (FD) is bone pain. [ojrd.com]

The syndrome is a result of sporadic early-onset postzygotic somatic mutation of the GNAS1 gene and is characterized by the triad of bone dysplasia, skin hyperpigmentation [termedia.pl]

Pyle's Disease

Disease definition A rare bone dysplasia characterized by genu valgum, metaphyseal anomalies with broadening of the long bones extending into the diaphyses and giving the [orpha.net]

Keywords Affected Sibling Tubular Bone Semantic Confusion Metaphyseal Dysplasia Sclerosing Bone Dysplasia These keywords were added by machine and not by the authors. [link.springer.com]

A new symptom-complex consisting of deafness, dwarfism, cleft palate, characteristic facies, and a generalized bone dysplasia. Am. J. Dis. Child., 113:214, 1967. ‎ [books.google.es]

Parastremmatic Dwarfism

A rare autosomal dominant bone dysplasia (OMIM:168400) characterised by severe dwarfism, kyphoscoliosis, bowing of extremities and contractures of large joints. [medical-dictionary.thefreedictionary.com]

Definition A bone dysplasia characterized by severe dwarfism, kyphoscoliosis, distortion and bowing of the extremities, and contractures of the large joints. [uniprot.org]

Imaging Decreased bone density, bowing of the long bones, platyspondyly and striking irregularities of endochondral ossification, with calcific stippling and streaking in [medical-dictionary.thefreedictionary.com]

Leontiasis

This monograph is a felicitous combination of a working atlas and a scholarly exposition of the various sclerosing bone dysplasias, considering in detail eighteen major entities [books.google.de]

(osteitis deformans) and fibrous dysplasia. [ncbi.nlm.nih.gov]

[…] leontiasis ossea, observed over a period of fifty years, is described with particular reference to certain similarities and differences as compared with Paget's disease of bone [ncbi.nlm.nih.gov]

Polyostotic Fibrous Dysplasia

It is characterized by deformities and fractures of the bones, endocrine abnormalities including early puberty, and skin hyperpigmentation Fibrous dysplasia of bone affecting [icd9data.com]

CONCLUSIONS: Bone-grafting, including both allograft and autograft, is of limited value in ablating the lesions of fibrous dysplasia. [ncbi.nlm.nih.gov]

Preferred Name Polyostotic fibrous dysplasia of bone Synonyms PFD - Polyostotic fibrous dysplasia ID Active 1 altLabel PFD - Polyostotic fibrous dysplasia Polyostotic fibrous [purl.bioontology.org]

Osteitis Fibrosa Disseminata

It is characterized by deformities and fractures of the bones, endocrine abnormalities including early puberty, and skin hyperpigmentation Fibrous dysplasia of bone affecting [icd9data.com]

Osteoblastic Hyperplasia of Bone, a Histochemical Appraisal of Fibrous Dysplasia of Bone. Cancer 10 (1957) 1157. PubMed Google Scholar 5. Coley, B. [link.springer.com]

Bonnemann-Meinecke-Reich Syndrome

Bone development disorder[?] Bone dysplasia Azouz type[?] Bone dysplasia corpus callosum agenesis[?] Bone dysplasia lethal Holmgren type[?] Bone dysplasia Moore type[?] [encyclopedia.kids.net.au]

[…] development disorder Bone dysplasia Azouz type Bone dysplasia corpus callosum agenesis Bone dysplasia lethal Holmgren type Bone dysplasia Moore type Bone fragility craniosynostosis [bioreference.net]

Reich syndrome Bonnemann Meinecke syndrome Bonnevie Ullrich Turner syndrome Book syndrome Boomerang dysplasia Booth Haworth Dilling syndrome Bor-Boy BOR syndrome Borjeson [bionity.com]

Cole-Carpenter Syndrome

Osteocraniosteosis Section XV Dense Bone Dysplasias with Normal Bone Shape 94. Blomstrand Dysplasia 95. [oupcanada.com]

dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities [malacards.org]

(OMIM phenotype number #112240 ) Cole-Carpenter syndrome is an extremely rare form of bone dysplasia. [iofbonehealth.org]

Osteoglophonic Dwarfism

An Atlas of Genetic Disorders of Skeletal Development Since the publication of the second edition on Bone Dysplasias ten years ago, there has been an explosion of knowledge [acco.be]

Bone X-rays are often key to diagnosing a specific skeletal dysplasia, but are not the sole diagnostic tool. [dict.eudic.net]

dysplasia. [iofbonehealth.org]

Platyspondyly

However, involvement of the long tubular bones and round bones, as well as pelvic and scapular involvement, delineates a previously unreported bone dysplasia. [rrnursingschool.biz]

Unclassified bone dysplasia with 13-years observation time. Austr. Radiol. (in print) Google Scholar 11. Köhler, A., Zimmer, E. [link.springer.com]

[…] elbow extension Disproportionate short-limb short stature Metaphyseal dysplasia Short long bone Waddling gait Hyperlordosis Pathologic fracture Spondyloepimetaphyseal dysplasia [mendelian.co]

Wolcott-Rallison Syndrome

WRS is characterized clinically through infantile IDDM, propensity for liver failure following viral infections, bone dysplasia and growth failure and developmental delay. [ncbi.nlm.nih.gov]

dysplasia, hepatic dysfunction, and growth retardation. [ncbi.nlm.nih.gov]

Wolcott-Rallison syndrome (WRS) is a rare autosomal recessive disorder characterized by the association of permanent neonatal or early-infancy insulin-dependent diabetes, multiple bone [ncbi.nlm.nih.gov]

Kenny-Caffey Syndrome Type 1

dysplasia characterized by prenatal and postnatal growth retardation, short stature, cortical thickening and medullary stenosis of the long bones, absent diploic space in [malacards.org]

Gracile bone dysplasia ( GCLEB ; MIM 602361) and Kenny-Caffey syndrome, type 2 ( KCS2 ; MIM 127000) are autosomal dominant disorders caused by mutations in the FAM111A gene [ctgt.net]

Kenny-Caffey syndrome, type 1 Gracile bone dysplasia ( GCLEB ; MIM 602361) and Kenny-Caffey syndrome, type 2 ( KCS2 ; MIM 127000) are autosomal dominant disorders caused by [ctgt.net]

Pyknodysostosis

Pyknodysostosis is a rare sclerosing bone dysplasia syndrome with autosomal recessive inheritance. [ncbi.nlm.nih.gov]

Abstract Pyknodysostosis is a rare, recessive, hereditary, autosomal disease belonging to the group of bone dysplasias. [oadoi.org]

Camurati-Engelmann Syndrome

Bram Perdu, Geert Mortier, Filip Vanhoenacker and Wim Van Hul, Sclerosing Bone Dysplasias, Pediatric Bone, 10.1016/B978-0-12-382040-2.10020-6, (541-556), (2012). [doi.org]

Camurati-Engelmann disease (CED) is a rare autosomal dominant type of bone dysplasia. [ncbi.nlm.nih.gov]

Overeating

Use of the prosthesis is also indicated for patients with congenital hip dysplasia, slipped capital femoral epiphysis and disability due to previous fusion, where bone stock [accessdata.fda.gov]

Mesomelic Dysplasia Type Savarirayan

pediatricians, and genetic counselors caring for patients with bone dysplasias. [kriso.ee]

Osteocraniosteosis ; Section XV Dense Bone Dysplasias with Normal Bone Shape ; 94. Blomstrand Dysplasia ; 95. [bookdepository.com]

dysplasia Primary bone dysplasia with decreased bone density Primary bone dysplasia with defective bone mineralization Primary bone dysplasia with disorganized development [se-atlas.de]