Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Crouzon syndrome is an autosomal dominant disorder caused by mutations of the FGFR3 gene.
| Acanthosis nigricans | |
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Among several other dysmorphic features acanthosis nigricans is typical of Crouzon syndrome, in particular when caused by FGFR3 mutations. |
| 1. |
Meyers GA et al. (1995) Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans. 
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| 2. |
Arnaud-López L et al. (2007) Crouzon with acanthosis nigricans. Further delineation of the syndrome.
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| 3. |
None (1992) Cutaneous findings in craniofacial malformation syndromes.
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| 4. |
Breitbart AS et al. (1989) Crouzon's syndrome associated with acanthosis nigricans: ramifications for the craniofacial surgeon.
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| 5. |
Reddy BS et al. (1985) An unusual association of acanthosis nigricans and Crouzon's disease--a case report.
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| 6. |
Wilkes D et al. (1996) A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricans.
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| 7. |
None (1999) Let's call it "Crouzonodermoskeletal syndrome" so we won't be prisoners of our own conventional terminology.
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| 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.
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| 9. |
OMIM.ORG article Omim 612247
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| 10. |
Orphanet article Orphanet ID 207
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| 11. |
Wikipedia article Wikipedia EN (Crouzon_syndrome)
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