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]

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]

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]

& 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]

We present a patient with fibrous dysplasia of the right temporal bone, who had few complaints. [ncbi.nlm.nih.gov]

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]

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]

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]

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]

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]

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]

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]