Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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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 external link
11.

OMIM.ORG article

Omim 607278 external link
12.

Wikipedia article

Wikipedia EN (Osteofibrous_dysplasia) external link
Update: Aug. 14, 2020
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