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22q11.2 microduplication syndrome with congenital aural atresia : a family report
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| Author |
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| Abstract |
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| 22q11.2 microduplication syndrome is characterized by a large phenotypic variability including facial dysmorphism, developmental delay, and hearing loss. We describe a family in whom 5 of 11 children were affected by a unilateral or bilateral congenital aural atresia. Four of these 5 carried a 22q11.2 microduplication and had typical dysmorphic features. Computed tomography with 3-D reconstructions allowed for a detailed examination of the middle ear structures and classification of the atresia type. Audiometry revealed a moderately severe conductive hearing loss in accordance with the clinical and computed tomography findings. Conclusion: Detailed examination of the ear is warranted in patients with a 22q11.2 microduplication. When outer ear abnormalities are encountered, an additional workup including audiometry and computed tomography with 3-D reconstructions is required. | | |
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English
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| Source (journal) |
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Otology and neurotology. - Philadelphia, Pa. | |
| Publication |
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Philadelphia, Pa. : 2012
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| ISSN |
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1531-7129
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| Volume/pages |
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33:4(2012), p. 674-680
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| ISI |
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000304315900035
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