| Autor: |
Milunsky J; Center for Human Genetics, Boston University School of Medicine, Boston, Massachusetts 02118-2526, USA. jmilunski@bu.edu, Suntra C, MacDonald CB |
| Jazyk: |
angličtina |
| Zdroj: |
American journal of medical genetics [Am J Med Genet] 1999 Feb 19; Vol. 82 (5), pp. 404-8. |
| Abstrakt: |
We report on a family with conductive hearing loss due to congenital stapes ankylosis, and with hyperopia, broad thumbs, and broad first toes. Neither of the studied relatives had symphalangism, possibly distinguishing this syndrome as an entity separate from the facio-audio-symphalangism and proximal symphalangism syndromes. An alternative possibility is that this family falls within the spectrum of the facioaudio-symphalangism and proximal symphalangism syndromes. Visualization of the ossicular chain, and ophthalmologic and radiologic studies are important in the evaluation of families with congenital conductive hearing loss. A characteristic physiognomy in our patients is present; this autosomal dominant syndrome was first described by Teunissen and Cremers [1990: Laryngoscope 100:380-384]. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
|
Plný text