Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Osteofibrous dysplasia

Osteofibrous dysplasia is an autosomal dominant disorder caused by mutations of the MET gene, which is characterized by he presence of a benign, fibro-osseous, osteolytic tumors.

Systematic

Bone dysplasia
Achondroplasia
Achondroplasia-SCID syndrome
Acrocapitofemoral dysplasia
Antley-Bixler syndrome 1
Antley-Bixler syndrome 2
Apert syndrome
Cherubism
Chondrodysplasia of Blomstrand type
Chondrodysplasia, Grebe type
Crouzon syndrome
Eiken syndrome
Failure of tooth eruption
McCune-Albright syndrom
Metaphyseal chondrodysplasia of Murk Jansen type
Muenke syndrome
Osteofibrous dysplasia
MET
Osteopathia striata with cranial sclerosis
Schimke Immunoosseous dysplasia
Thanatophoric dysplasia 1
Thanatophoric dysplasia 2

References:

1.

Beals RK et al. (1976) Familial congenital bowing of the tibia with pseudarthrosis and pectus excavatum: report of a kindred.

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2.

Sunkara UK et al. (1997) Bilateral osteofibrous dysplasia: a report of two cases and review of the literature.

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3.

Karol LA et al. (2005) Familial osteofibrous dysplasia. A case series.

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4.

Gray MJ et al. (2015) Mutations Preventing Regulated Exon Skipping in MET Cause Osteofibrous Dysplasia.

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5.

None (1976) Osteofibrous dysplasia of long bones a new clinical entity.

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6.

Roach JW et al. (1993) Late-onset pseudarthrosis of the dysplastic tibia.

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7.

Park YK et al. (1993) Osteofibrous dysplasia: clinicopathologic study of 80 cases.

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8.

Hunter AG et al. (2002) Osteofibrous dysplasia: two affected male sibs and an unrelated girl with bilateral involvement.

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9.

Taylor RM et al. (2012) Analysis of stromal cells in osteofibrous dysplasia and adamantinoma of long bones.

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10.

Orphanet article

Orphanet ID 488265 [^]
11.

OMIM.ORG article

Omim 607278 [^]
12.

Wikipedia article

Wikipedia EN (Osteofibrous_dysplasia) [^]
Update: April 29, 2019