Abstract | OBJECTIVE: STUDY DESIGN: Retrospective case review. SETTING: PATIENTS: INTERVENTION: MAIN OUTCOME MEASURES: Mutation analysis, surgical suitability, and hearing rehabilitation. RESULTS: We detected a novel heterozygous missense mutation (Ile30Asn) in Patient 1 and a de novo mutation (Asp50Asn) in the GJB2 gene (connexin-26) in Patient 2. To decrease the risk of skin flap necrosis, we describe alternative surgical cochlear implantation techniques with a novel very thin receiver/stimulator (Nucleus CI 513; Cochlear Corp.). The postoperative course of both patients has been without any problems until now. CONCLUSION: The combination of the cutaneous lesions with visual and auditory impairment demands to diagnose impaired hearing as early as possible. It would be helpful to search for KID syndrome in dealing with patients with deafness, skin lesions of unknown cause, and wound healing problems to choose the right method of surgical treatment and subsequent aftercare.
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Authors | Susan Arndt, Antje Aschendorff, Christian Schild, Rainer Beck, Wolfgang Maier, Roland Laszig, Ralf Birkenhäger |
Journal | Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology
(Otol Neurotol)
Vol. 31
Issue 2
Pg. 210-5
(Feb 2010)
ISSN: 1537-4505 [Electronic] United States |
PMID | 20101161
(Publication Type: Case Reports, Journal Article)
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Chemical References |
- Connexins
- GJB2 protein, human
- Connexin 26
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Topics |
- Cochlear Implantation
- Connexin 26
- Connexins
(genetics)
- DNA Mutational Analysis
- Deafness
(genetics, pathology, surgery)
- Female
- Hearing Aids
- Hearing Loss, Bilateral
(genetics, pathology)
- Humans
- Ichthyosis
(genetics, pathology)
- Infant
- Keratitis
(genetics, pathology)
- Middle Aged
- Mutation
(physiology)
- Mutation, Missense
(genetics, physiology)
- Photosensitivity Disorders
(genetics, pathology)
- Reverse Transcriptase Polymerase Chain Reaction
- Scalp
(pathology)
- Syndrome
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