Das Crouzon-Syndrom ist eine autosomal dominante Erkrankung, die durch Mutationen im FGFR3-Gen ausgelöst wird.
Acanthosis nigricans | |
Neben anderen Dysmorphien ist die Acanthosis nigricans typisch für das Crouzon-Syndrom, insbesondere wenn durch FGFR3-Mutationen ausgelöst. |
1. |
Meyers GA et al. (1995) Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans. |
2. |
Arnaud-López L et al. (2007) Crouzon with acanthosis nigricans. Further delineation of the syndrome. |
3. |
None (1992) Cutaneous findings in craniofacial malformation syndromes. |
4. |
Breitbart AS et al. (1989) Crouzon's syndrome associated with acanthosis nigricans: ramifications for the craniofacial surgeon. |
5. |
Reddy BS et al. (1985) An unusual association of acanthosis nigricans and Crouzon's disease--a case report. |
6. |
Wilkes D et al. (1996) A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricans. |
7. |
None (1999) Let's call it "Crouzonodermoskeletal syndrome" so we won't be prisoners of our own conventional terminology. |
8. |
Schweitzer DN et al. (2001) Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3. |
9. |
OMIM.ORG article Omim 612247 |
10. |
Orphanet article Orphanet ID 207 |
11. |
Wikipedia Artikel Wikipedia DE (Crouzon-Syndrom) |