Bone Dysplasia: Causes & Reasons

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Possible Causes for Bone Dysplasia

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]

Ultrasonography of the hip in developmental hip dysplasia. The Journal of Bone and Joint Surgery, 80(2), pp.321-324. [citethisforme.com]

Severe Short Stature

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

Abstract We report on two sibs with a lethal form of bone dysplasia with distinctive skeletal findings including rhizomelic and mesomelic limb shortening, hooked clavicles [ncbi.nlm.nih.gov]

[…] of bone dysplasias. [lpaonline.org]

Melorheostosis

Mixed sclerosing bone dysplasia in a family with autosomal dominant osteopoikilosis raises the possibility that the two bone disorders may be related. [ncbi.nlm.nih.gov]

Several cases of "mixed sclerosing bone dysplasia" have been described previously, and all have been sporadic. [ncbi.nlm.nih.gov]

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]

Fibrous Dysplasia

In most people, only one bone is affected (monostotic fibrous dysplasia). [upmc.com]

We present 1 case of fibrous dysplasia with isolated zygomatic bone involvement. [ncbi.nlm.nih.gov]

stromal cell dysfunction, and osteomalacic changes in non-McCune-Albright fibrous dysplasia of bone. [doi.org]

Rib Tumor

On plain radiography, frosted glass-like bone lesions are characteristic of fibrous dysplasia. [jstage.jst.go.jp]

Fibrous dysplasia is caused by the inability of the bone-forming tissue to produce mature bone due to a genetic mutation in a G protein. [tumorsurgery.org]

Tumors that develop in the ribs comprise only 2.4% of all bone tumors. In these tumors, the incidence of fibrous dysplasia is 26%, making it highest among rib tumors. [jstage.jst.go.jp]

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]

Additionally, Florid Cemento-osseous Dysplasia - Florid cemento-osseous dysplasia is a condition of the bone which is rare and usually affects jaw bones. dysplasia group, [sino-german-platform.eu]

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]

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

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]

Fitzsimmons-McLachlan-Gilbert Syndrome

[…] of arteries Fibromuscular dysplasia Fibrosarcoma Fibrosing alveolitis Fibrosing Mediastinitis Fibrosis Fibrous dysplasia of bone Fibrous dysplasia Fibrousdysplasia ossificans [bioreference.net]

[…] of arteries * Fibromuscular dysplasia * Fibromyalgia * Fibrosarcoma * Fibrosing alveolitis * Fibrosing Mediastinitis * Fibrosis * Fibrous dysplasia of bone * Fibrous dysplasia [en.academic.ru]

Fibrinogen deficiency, congenital Fibrochondrogenesis Fibrolipomatosis Fibromatosis gingival hypertrichosis Fibromatosis multiple non ossifying Fibromatosis Fibromuscular dysplasia [bioreference.net]

Bone Fibroma

Fibrous dysplasia : Tends to occupy a longer segment of bone than desmoplastic fibroma, has a mineralized matrix, and may have a sclerotic rim. [roentgenrayreader.blogspot.com]

In fibrous dysplasia the bone to fibrous tissue ratio is rather uniform. 3. [drtbalu.wikidot.com]

Bone dysplasias a. Fibrous dysplasia i. Monostotic ii. Polyostotic iii. Polyostotic with endocrinopathy (McCune-Albright) iv Osteofibrous dysplasiaa b. [intechopen.com]

Adamantinoma

Lane 1, adamantinoma of long bones; lane 2, osteofibrous dysplasia; and lane 3, osteofibrous dysplasia-like adamantinoma of long bones. [nature.com]

Abstract Adamantinoma of long bones (ALB) and osteofibrous dysplasia (OFD) are rare osteolytic bone tumours that principally arise in the tibia. [ncbi.nlm.nih.gov]

[…] of bone, fibrous dysplasia/osteofibrous dysplasia, and vascular tumors. [ncbi.nlm.nih.gov]

Schwartz-Jampel Syndrome

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

Type Ia is usually recognized in childhood and is associated with moderate bone dysplasia. [accessanesthesiology.mhmedical.com]

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. [miami.pure.elsevier.com]

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]

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]

Both of the terms dysplasia and dysostosis may be considered correct since in CCD, bone malformation (dysplasia) results from defective ossification (dysostosis). [symptoma.com]

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

Cole-Carpenter Syndrome

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

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

Orpha Number: 2050 Definition An extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple [malacards.org]

Bonnemann-Meinecke-Reich Syndrome

[…] 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]

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]

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

Spondyloepiphyseal Dysplasia Congenita

Spondyloepiphyseal dysplasia congenita is an inheritable bone dysplasia causing abnormalities that manifest at birth and primarily involve the spine and proximal epiphyses [ncbi.nlm.nih.gov]

Spondyloepiphyseal dysplasia congenita (abbreviated to SED more often than SDC) is a rare disorder of bone growth that results in dwarfism, characteristic skeletal abnormalities [en.wikipedia.org]

References Spranger: Bone Dysplasias, Urban & Fischer 2002, ISBN 3-437-21430-6 External links GeneReviews/NIH/NCBI/UW entry on X-Linked Spondyloepiphyseal Dysplasia Tarda [ipfs.io]

Pyle's Disease

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]

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]

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]

Familial Ossifying Fibroma

A variant of fibrous dysplasia (osteofibrous dysplasia). J Bone Joint Surg Am. 1982 Feb. 64 (2):231-6. [Medline]. Kahn LB. [emedicine.medscape.com]

Types of Fibrous Dysplasia Forms of presentation of fibrous dysplasia Bone Involvement Single Multiple Cafἐ au Lait Spots Endocrine disorders Soft-tissues masses Monostotic [slideshare.net]

Register Ossifying Fibroma of Long Bone: Its Distinction from Fibrous Dysplasia and Its Association with Adamantinoma of Long Bone - 24 Hours access EUR €36.00 GBP £28.00 [academic.oup.com]

Parietal Foramina with Cleidocranial Dysplasia

Melorheostosis SP Osteopoikilosis AD Mixed sclerosing bone dysplasia SP 27. [gamuts.isradiology.org]

Abnormal ossification of the hyoid bone in cleidocranial dysplasia. Can Assoc Radiol J 1993; 44: 277–9 PubMed Google Scholar Seow WK, Hertzberg J. [link.springer.com]

RUNX2 has also been referred to as the “master gene” of bone development. The genetic defect results in generalized dysplasia of bone and dental tissue. [accessanesthesiology.mhmedical.com]

Mazabraud Syndrome

[…] 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]

Abstract: Objective: Mazabraud's syndrome is a rare form of bone fibrous dysplasia associated with intramuscular myxomas. [eurekaselect.com]

Fibrous dysplasia Sample pathology report Bone, biopsy: Fibrous dysplasia of bone (see comment) Comment: Fibrous dysplasia is most commonly sporadic but is also a typical [pathologyoutlines.com]

Chondrodystrophy

Spranger JW, Langer LO, Wiedemann HR (1974) Bone dysplasias. Gustav Fischer Verlag, Stuttgart, pp 24–27 Google Scholar 2. [link.springer.com]

[…] increasing deformity; it may affect a single bone (monostotic fibrous dysplasia) or several or many bones (polyostotic fibrous dysplasia). [web.archive.org]

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.ro]

Neurofibromatosis

CONCLUSION: Sphenoid bone dysplasia in NF1, resulting in proptosis and exophthalmos, is usually progressive. [ncbi.nlm.nih.gov]

Neurofibromatosis Type 1 (NF1) is a genetic neurocutaneous disorder with multisystem manifestations, including a predisposition to tumor formation and bone dysplasias. [ncbi.nlm.nih.gov]

The disorder is associated with spinal deformities, long bone dysplasia, and osteoporosis. [ncbi.nlm.nih.gov]

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]

Kniest syndrome (autosomal dominant; kyphoscoliosis, shortened tubular bones). Metatrophic dysplasia (severe kyphoscoliosis, narrow chest, metaphyseal flaring). [fetalultrasound.com]

Abstract A mother and daughter with metacarpal and metatarsal asymmetry, tarsal and carpal fusions, long bone articular dysplasia and platyspondyly are reported as a possible [ncbi.nlm.nih.gov]

Calvarial Doughnut Lesions - Bone Fragility Syndrome

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

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. [amazon.de]

Mesoaxial Synostotic Syndactyly with Phalangeal Reduction

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]

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

[…] of skeletal components Primary bone dysplasia with increased bone density Primary bone dysplasia with micromelia Primary bone dysplasia with multiple joint dislocations Primary [se-atlas.de]

Congenital Scoliosis due to Bony Malformation

OMIM : 58 The term 'brachyolmia' was coined to designate a bone dysplasia characterized clinically by short trunk dwarfism and radiographically by generalized platyspondyly [malacards.org]

Figure 2 Different perspectives in classification of the TRPV4 bone dysplasias. [ojrd.biomedcentral.com]

dysplasia and no stigmata of the other differential diagnoses. [theassr.org]

Fibrochondrogenesis

It is a lethal rhizomelic (malformations which result in short, underdeveloped limbs) form of dwarfism, exhibiting both skeletal dysplasia (malformations of bone) and fibroblastic [medical-sentry.com]

Mirghani, Stuve–Wiedemann syndrome: a skeletal dysplasia characterized by bowed long bones, Ultrasound in Obstetrics & Gynecology, 38, 5, (553-558), (2011). G. N. [doi.org]

Leontiasis due to Leprosy

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]

In the skull base and facial bones, fibrous dysplasia manifests as marked sclerosis and bone thickening. [skullbaseinstitute.com]

"Leontiasis ossea" is the specific name for fibrous dysplasia involving the facial and cranial bones. [skullbaseinstitute.com]

Bone Cyst

F.: Fibrous dysplasia of the femoral neck. Treatment by cortical bone-grafting. J. [www0.sun.ac.za]

Differential Diagnosis Fibrous dysplasia Aneurysmal bone cyst 11 • Monostotic fibrous dysplasia is usually eccentric rather than central and diaphyseal rather than metaphyseal [slideshare.net]

dysplasia of the hip. [ncbi.nlm.nih.gov]