Akromesomele Dysplasie Typ Hunter-Thompson
Die Akromesomele Dysplasie vom Typ Hunter-Thompson ist eine autosomal rezessive Erkrankung die durch Mutationen im GDF5-Gen hervorgerufen wird. Zu den Merkmalen dieser Erkrankung zählen eine extremer Minderwuch mit Hypomelie sowie viele weitere schere Störungen des Knochen- und Gelenksystems. Typischerweise verstärkt sich die Verkürzung von proximal nach distal.
Gliederung
Chondrodysplasie
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Akromesomele Dysplasie Typ Demirhan
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Akromesomele Dysplasie Typ Grebe
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Akromesomele Dysplasie Typ Hunter-Thompson
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GDF5
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GDF5
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Referenzen:
| 1. |
Hunter AG et. al. (1976) Acromesomelic dwarfism: description of a patient and comparison with previously reported cases. [^] |
| 2. |
Langer LO et. al. (1989) A severe autosomal recessive acromesomelic dysplasia, the Hunter-Thompson type, and comparison with the Grebe type. [^] |
| 3. |
Thomas JT et. al. (1996) A human chondrodysplasia due to a mutation in a TGF-beta superfamily member. [^] |
| 4. |
Langer LO et. al. (1977) Acromesomelic dwarfism: manifestations in childhood. [^] |
| 5. |
None (1974) Autosomal recessive inheritance in the mesomelic dwarfism of Campailla and Martinelli. [^] |
| 6. |
Campailla E et. al. (1971) [Statural deficiency with micromesomelia. Report of 2 familial cases]. [^] |
| 7. |
Langer LO et. al. (1980) Acromesomelic dysplasia. [^] |
| 8. |
Clarke WN et. al. (1994) Ocular findings in acromesomelic dysplasia. [^] |
