verbreiterter Daumen

Atypisch

geformtes Endglied des Daumens links und rechts mit Ausbildung zweier Nagelkränze und Lochbildung dazwischen; Minimalform einer Polydaktylie?

Novel cAMP

binding protein-BP (CREBBP) mutation in a girl with Rubinstein-Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia. This hand wrist radiograph was made when she was 14 years old. The arrow shows a duplication of terminal phalanx of the thumb.

Rubinstein-Taybi

syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report. X-rays of the hands. The angulated thumbs are caused by a delta-phalanx