Das Wolf-Hirschhorn Syndrom

Zusammenfassung

Das Wolf-Hirschhorn-Syndrom (WHS), Inzidenz: 1:20 000–1:50 000, weibliche Dominanz (2:1), ist eine komplexe Entwicklungsstörung, die sich durch kraniofaziale Dysmorphien, Kleinwuchs, Muskelhypotonie, psychomotorischer Retardierung und Anfallsleiden auszeichnet. Zytogenetisch findet sich eine terminale Deletion am kurzen Arm des Chromosom 4. Ausgehend von der Größe und Ausprägung der zugrunde liegenden Chromosomenaberration, zeigen die Kinder ein variables Bild an Mittelliniendefekten, Anomalien des Skelett- und Urogenitalsystems, sowie des zentralen Nervensystems. Etwa 1/3 der Kinder verstirbt im 1. Lebensjahr. Bei variabler Expressivität der Chromosomenaberration können Betroffene jedoch bei guter medizinischer und psychosozialer Betreuung im Einzelfall das 30. Lebensjahr erreichen. Aufgrund der zunehmenden Qualität der hochauflösenden Sonografie, kann das WHS in vielen Fällen bereits pränatal diagnostiziert werden. Die vorliegende Arbeit präsentiert einen klinischen Fall und gibt eine aktuelle Literaturübersicht über das seltene Krankheitsbild.

Abstract

Wolf-Hirschhorn syndrome (WHS) represents a complex developmental disorder characterized by craniofacial dysmorphism, short stature, hypotonia, psychomotor retardation and seizures caused by a terminal deletion of the short arm of chromosome 4. Depending on the extent of the deletion, variable midline defects, abnormalities of the skeletal or urogenital system as well as the central nervous system are observed. Approximately 1/3 of the infants will die in the first year of life even though survival for more than 30 years has been reported. Due to current high quality standards of ultrasonography, WHS can often be diagnosed prenatally. We present a clinical case and provide an overview of the current literature.

Schlüsselwörter

Wolf-Hirschhorn-Syndrom - Deletion - 4p - prenatal

Key words

wolf-hirschhorn syndrome - deletion - 4p - prenatal

• Literatur

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