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