Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Crouzon-Syndrom

Das Crouzon-Syndrom ist eine autosomal dominante Erkrankung, die durch Mutationen im FGFR3-Gen ausgelöst wird.

Symptome

Acanthosis nigricans
Neben anderen Dysmorphien ist die Acanthosis nigricans typisch für das Crouzon-Syndrom, insbesondere wenn durch FGFR3-Mutationen ausgelöst.

Gliederung

Knochendysplasie
Achondroplasie
Antley-Bixler-Syndrom 1
Antley-Bixler-Syndrom 2
Apert-Syndrom
Blomstrand-Chondrodysplasie
Brachydaktylie Typ E2
Crouzon-Syndrom
FGFR3
Eiken-Syndrom
McCune-Albright-Syndrom
Muenke-Syndrom
Murk-Jansen metaphyseale Chondrodysplasie
Osteopathia striata mit kranialer Sklerose
Schimke-Dysplasie
Thanatophore Dysplasie 1
Thanatophore Dysplasie 2
Zahnbildungsstörungen

Referenzen:

1.

None (1992) Cutaneous findings in craniofacial malformation syndromes.

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2.

Breitbart AS et. al. (1989) Crouzon's syndrome associated with acanthosis nigricans: ramifications for the craniofacial surgeon.

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3.

Reddy BS et. al. (1985) An unusual association of acanthosis nigricans and Crouzon's disease--a case report.

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4.

Meyers GA et. al. (1995) Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans.

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5.

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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6.

None (1999) Let's call it "Crouzonodermoskeletal syndrome" so we won't be prisoners of our own conventional terminology.

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7.

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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8.

Arnaud-López L et. al. (2007) Crouzon with acanthosis nigricans. Further delineation of the syndrome.

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