A Case of Teunissen-Cremers Syndrome

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  • Yasuda Mamiko
    Department of Otolaryngology, Omori Hospital, Toho University School of Medicine
  • Ida Yutaro
    Department of Otolaryngology, Omori Hospital, Toho University School of Medicine
  • Suetsugu Toshinari
    Department of Otolaryngology, Omori Hospital, Toho University School of Medicine
  • Matsushima Kouji
    Department of Otolaryngology, Omori Hospital, Toho University School of Medicine
  • Edamatsu Hideo
    Department of Otolaryngology, Omori Hospital, Toho University School of Medicine

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We encountered a case of conductive hearing loss due to stapes fixation, accompanied by broad thumbs, broad toes, and hyperopia. The patient was a 26-year-old man who had been using hearing aids for bilateral hearing loss since childhood. A detailed examination performed at our ENT department revealed conductive hearing loss and absence of the stapedial reflex, and otosclerosis was suspected as the cause of the conductive hearing loss. Physical findings included fusion of the second and third toes, broad thumbs, and proximal symphalangism in the left fifth finger and hyperopia, which led us to suspect the diagnosis of Teunissen-Cremers Syndrome, a genetic disorder first reported by Teunissen and Cremers in 1990. Teunissen-Cremers Syndrome is an autosomal-dominant inherited disorder presumably caused by mutations in the human noggin (NOG) gene. Our patient did not have a positive family history for the syndrome, although isolated cases have also been reported in the past. However, none of these cases were subjected to detailed genealogical research; therefore, the possibility of familial occurrence cannot be excluded.<br>There are approximately 50 genes believed to be associated with conductive hearing loss. If we could perform genetic testing with the patient’s consent and clarify the correspondence between the NOG mutations and the phenotypic patterns, we might be able to develop a new classification of conductive hearing loss.

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