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Kleine Deletion—große Auswirkung

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Zusammenfassung

Das velokardiofaziale Syndrom (VCFS) oder Shprintzen-II-Syndrom zeichnet sich v. a. durch Gaumenspalte (69%), Herzfehler (74%), charakteristische faziale Dysmorphien sowie Lernschwierigkeiten (70–90%) aus. Es weist Phänotypüberlappungen mit dem DiGeorge-Syndom (DGS) auf. 1992 wurde nachgewiesen, dass bei Patienten mit VCFS eine partielle Monosomie 22q11 vorliegt. Deletionsbereich und variable Deletionsgröße unterscheiden sich bei vielen VCFS-Patienten nicht von denen der DGS-Patienten. Für den HNO-Arzt ist wichtig, dass bei Auffälligkeiten in Form von Mittelohraffektionen und einer—ggf. auch submukösen—Gaumenspalte auch nach kardialen Erkrankungen gefragt werden sollte. Liegt eine Kombinationserkrankung vor, sollte zu einer humangenetischen Untersuchung des Kindes geraten werden, um dem Verdacht auf das Vorliegen eines velokardiofazialen Syndroms zu bestätigen oder auszuschließen. Nur so kann diese genetisch bedingte Erkrankung frühzeitig erkannt werden.

Abstract

Velocardiofacial syndrome (VCFS) or Shprintzen’s syndrome leads to cleft palate (69%), heart defects (74%), and characteristic facial dysmorphies as well as learning difficulties (70–90%). There is phenotypic overlap with DiGeorge syndrome (DGA). In 1992, it was shown that patients with VCFS had a partial 22q11 monosomy. The site and size of the deletion in many VCFS patients do not differ from patients with DGS. For the otolaryngologist, it is important to check for cardiac defects if the characteristic middle ear effects and possibly submucosal cleft palate are present. If a combination of these exist, it is advisable to carry out a genetic examination of the child in order to determine whether VCFS is present or not. This is the only way of providing an early diagnosis of this syndrome.

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Authors and Affiliations

  1. Klinik und Poliklinik für Phoniatrie und Pädaudiologie, Medizinische Hochschule Hannover

    K. Lüerßen, M. Pruggmayer & M. Ptok

  2. Klinik und Poliklinik für Phoniatrie und Pädaudiologie, Medizinische Hochschule Hannover, Carl-Neuberg-Straße 1, 30625, Hannover

    K. Lüerßen

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  1. K. Lüerßen
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  2. M. Pruggmayer
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  3. M. Ptok
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Lüerßen, K., Pruggmayer, M. & Ptok, M. Kleine Deletion—große Auswirkung. HNO 52, 258–260 (2004). https://doi.org/10.1007/s00106-003-0954-3

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  • DOI: https://doi.org/10.1007/s00106-003-0954-3

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