Noonan-Syndrom

Zusammenfassung

Das Noonan-Syndrom zeichnet sich durch die Trias Minderwuchs, kardiovaskuläre Anomalien und faziale Auffälligkeiten aus. In der Differenzialdiagnose angeborener Herzfehler nimmt es einen hohen Stellenwert ein. Mutationen im PTPN11-Gen werden bei 30-50 % der Fälle beschrieben. Entscheidend für einen erfolgreichen Mutationsnachweis ist die klinische Identifikation des Krankheitsbildes. Wir berichten über den klinischen Verlauf bei einem Mädchen mit klinisch und molekulargenetisch gesichertem Noonan-Syndrom im Alter von 13 Monaten bis 14 Jahren.

Summary

Noonan syndrome is characterised by the triad short stature, cardiovascular anomalies and craniofacial dysmorphisms. It takes a high place in the differential diagnosis of congenital heart defects. Mutations in the PTPN11 gene are described in 30 to 50 % of all cases. The clinical identification of the syndrome is essential for a successful mutation detection. We report on the clinical course of a girl with a clinically and molecular-genetically proven Noonan syndrome from 13 months to 14 years.

Schlüsselwörter

Noonan-Syndrom - Minderwuchs - kraniofaziale Auffälligkeiten - geistige Retardierung - PTPN11

Keywords

Noonan syndrome - short stature - craniofacial dysmorphisms - mental retardation - PTPN11

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