Zusammenfassung
Wir beschreiben die verschiedenartige klinische Symptomatik von 4 Patienten, bei denen Mutationen im p63-Gen nachgewiesen wurden. Das Spektrum reicht von einer isolierten Spaltbildung an Händen und Füßen (Patient 1), über eine Spalthand- und Spaltfußfehlbildung mit ektodermaler Komponente (Patienten 2 und 3), bis hin zu einer im Vordergrund stehenden ektodermalen Symptomatik im Rahmen des Ankyloblepharon-Ektodermale-Dysplasie-Cleft-lip/palate(AEC)-Syndroms (Patientin 4). Die klinischen Charakteristika der bisher bekannten p63-assoziierten Krankheitsbilder werden erläutert, und die Phänotyp-Genotyp-Beziehungen werden diskutiert.
Abstract
We present the clinical symptoms of four patients which resulted from mutations in the p63 gene. The variability of the phenotype includes an isolated split hand/foot malformation (patient 1), split hand/foot malformation with ectodermal defects (patients 2 and 3), and ectodermal dysplasia as a main feature of the ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome (patient 4). Different phenotypes of p63-associated disorders and the correlation between the phenotype and genotype are discussed.
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Lehmann, K., Tinschert, S., Leschik, G. et al. Klinische Variabilität bei Mutationen im p63-Gen . Monatsschr Kinderheilkd 153, 651–656 (2005). https://doi.org/10.1007/s00112-004-0891-6
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DOI: https://doi.org/10.1007/s00112-004-0891-6