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McCune-Albright-Syndrom

McCune-Albright-Syndrom beruht auf somatischen Mutationen des GNAS Gens, die frühzeitig in der Entwicklung auftreten undzu einem Mosaik gesunder und erkrankter zellen führen. Klinisch ist die Erkrankung gekennzeichnet durch die Trias Pubertas praecox, fibröse Dysplasie des Knochens (Jaffe-Lichtenstein) und Cafe-au-lait Flecken.

Symptome

Cafe-au-lait-Flecke
Cafe-au-lait-Flecken gehören zu den typischen Hauterscheinungen bei McCune-Albright-Syndrom, aber leider gelingt der Mutationsnachweis in solchen Hautarealen selten.

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
GNAS
Muenke-Syndrom
Murk-Jansen metaphyseale Chondrodysplasie
Osteofibröse dysplasie
Osteopathia striata mit kranialer Sklerose
Schimke-Dysplasie
Thanatophore Dysplasie 1
Thanatophore Dysplasie 2
Zahnbildungsstörungen

Referenzen:

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None (1993) Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 7-1993. A six-year-old boy with multiple bone lesions, repeated fractures, and sexual precocity.

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39.

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43.

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44.

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45.

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48.

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49.

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53.

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54.

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55.

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56.

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57.

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58.

Orphanet article

Orphanet ID 562 external link
59.

OMIM.ORG article

Omim 174800 external link
60.

Wikipedia Artikel

Wikipedia DE (Fibröse_Dysplasie) external link
Update: 14. August 2020
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