Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Osteofibröse dysplasie

Die osteofibröse dysplasie ist eine autosomal dominante Erkrankung, die durch Mutationen im MET-Gen hervorgerufen wird und durch benigne fibroossäre, osteolytische Tumore gekennzeichnet ist,

Gliederung

Knochendysplasie
Achondroplasie
Achondroplasie-SCID-Syndrom
Akro-capito-femorale Dysplasie
Antley-Bixler-Syndrom 1
Antley-Bixler-Syndrom 2
Apert-Syndrom
Blomstrand-Chondrodysplasie
Cherubismus
Chondrodysplasie
Crouzon-Syndrom
Eiken-Syndrom
McCune-Albright-Syndrom
Muenke-Syndrom
Murk-Jansen metaphyseale Chondrodysplasie
Osteofibröse dysplasie
MET
Osteopathia striata mit kranialer Sklerose
Schimke-Dysplasie
Thanatophore Dysplasie 1
Thanatophore Dysplasie 2
Zahnbildungsstörungen

Referenzen:

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 [^]
Update: 29. April 2019