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Niikawa-Kuroki- (Kabuki-)Syndrom und Schwerhörigkeit

Niikawa-Kuroki (Kabuki) syndrome and hearing impairment

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Zusammenfassung

Das Niikawa-Kuroki- (Kabuki-)Syndrom ist ein seltenes Dysmorphiesyndrom mit auffälliger Facies, Apostasis otis, postnatalem Minderwuchs und multiplen Fehlbildungen. Nach der Erstbeschreibung 1981 in Japan wurden bis 1999 über 100 europäische Fälle mit diesem Syndrom veröffentlicht.

Der hier vorliegende Fallbericht berichtet von einem 10-jährigen Mädchen, das 3 1/2 Jahre zuvor erstmalig wegen Hörstörungen in unserer Klinik vorgestellt wurde. Die motorische und geistige Entwicklung war verzögert. Zusätzlich wurden rezidivierende Otitiden mit Schwerhörigkeit und Sprachstörungen angegeben. Die typische Physiognomie hatte bereits im Säuglingsalter zur Diagnose geführt.

Rezidivierende Otitiden, Schwerhörigkeit, geistige Behinderung, Kleinwuchs und die typischen Dysmorphiezeichen unserer Patientin entsprechen den Beschreibungen aus bisherigen Studien über Patienten mit diesem Syndrom. Da Kinder mit diesem Syndrom auch schwerhörig sein können, ist frühzeitig eine entsprechende Diagnostik erforderlich.

Abstract

The Niikawa-Kuroki syndrome is a rare syndrome characterized by multiple congenital anomalies, mental retardation, postnatal growth deficiency, dermatoglyphic abnormalities and a characteristic facial appearance. More than 100 cases of the syndrome have been described in Europe. Here we report a 10 year old girl with this syndrome. Recurrent infections of the middle ear as well as delayed motor and speech development were present. The physiognomy since early infancy showed a flat profil, long palpebral fissures, long eyelashes, high arched eyebrows, missing lateral incisors and persistent fetal pads on the fingers.

The patient was referred to us because of hearing impairment. Her parents also described a delayed motor development, mental retardation and a language impairment.

Audiometry demonstrated a pantonal hearing loss. Since children affected by this syndrome may also have a severe hearing impairment early testing is mandatory.

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Authors and Affiliations

  1. Klinik für Phoniatrie und Pädaudiologie, Medizinische Hochschule Hannover

    K. Lüerßen & M. Ptok

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

    K. Lüerßen

Authors
  1. K. Lüerßen
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  2. M. Ptok
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Lüerßen, K., Ptok, M. Niikawa-Kuroki- (Kabuki-)Syndrom und Schwerhörigkeit. HNO 52, 451–454 (2004). https://doi.org/10.1007/s00106-003-0859-1

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  • DOI: https://doi.org/10.1007/s00106-003-0859-1

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