Beare – Stevenson – Syndrome
Zuletzt aktualisiert: 2022-11-16
Autor(en): Anzengruber F., Navarini A.
ICD11: LD27.0Y
Zuletzt aktualisiert: 2022-11-16
Autor(en): Anzengruber F., Navarini A.
ICD11: LD27.0Y
Beare 1969
Stevenson 1978
Cutis – verticis – gyrata Syndrom
Cutis– gyrata Syndrom
Kraniosynostose Syndrom, welches durch eine Mutation des FGFR2 (Fibroblasten – Wachstumsfaktor – Rezeptor 2 ausgelöst wird.
Autosomal dominante Mutation des FGFR2 (Fibroblasten – Wachstumsfaktor – Rezeptor 2.
Cutis gyrata (Kopfhaut und Präaurikularregion sowie palmoplantar)
Acanthosis nigricans
Extrakutane Manifestation:
Klinik
Genetische Analyse
Dieser Inhalt steht nur registrierten Nutzer:innen zur Verfügung
Keine ursächliche Therapie möglich.
1. Walker KA, Sims-Lucas S, Bates CM. Fibroblast growth factor receptor signaling in kidney and lower urinary tract development. Pediatr Nephrol. 2016 Jun;31(6):885-95.
2. McGaughran J, Sinnott S, Susman R, Buckley MF, Elakis G, Cox T, Roscioli T. A case of Beare-Stevenson syndrome with a broad spectrum of features and a review of the FGFR2 Y375C mutation phenotype. Clin Dysmorphol. 2006 Apr;15(2):89-93.
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