- Abstract:
-
We describe a recessively inherited frontonasal malformation characterized by a distinctive facial appearance, with hypertelorism, wide nasal bridge, short nasal ridge, bifid nasal tip, broad columella, widely separated slit-like nares, long philtrum with prominent bilateral swellings, and midline notch in the upper lip and alveolus. Additional recurrent features present in a minority of individuals have been upper eyelid ptosis and midline dermoid cysts of craniofacial structures. Assuming r...
Expand abstract - Publication status:
- Published
- Publisher copy:
- 10.1016/j.ajhg.2009.04.009
-
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- Journal:
- American journal of human genetics
- Volume:
- 84
- Issue:
- 5
- Pages:
- 698-705
- Publication date:
- 2009-05-05
- DOI:
- EISSN:
-
1537-6605
- ISSN:
-
0002-9297
- URN:
-
uuid:10289cb0-df9a-4969-9608-b476067c14b8
- Source identifiers:
-
119916
- Local pid:
- pubs:119916
- Language:
- English
- Keywords:
- Copyright date:
- 2009
Journal article
Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene.
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