| Title |
|
|
|
22q11.2 microduplication syndrome with congenital aural atresia : a family report
| |
| Author |
|
|
|
| |
| Abstract |
|
|
|
| 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. |
| |
| Language |
|
|
|
English
| |
| Source (journal) |
|
|
|
Otology and neurotology. - Philadelphia, Pa. | |
| Publication |
|
|
|
Philadelphia, Pa. : 2012
| |
| ISSN |
|
|
|
1531-7129
| |
| Volume/pages |
|
|
|
33:4(2012), p. 674-680
| |
| ISI |
|
|
|
000304315900035
| |
| Full text (Publisher's DOI) |
|
|
| | |
|