Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene.

@article{Twigg2009FrontorhinyAD,
  title={Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene.},
  author={Stephen R F Twigg and Sarah L. Versnel and Gudrun Nuernberg and Melissa Lees and Meenakshi Bhat and Peter Hammond and Raoul C Hennekam and A. Jeannette M. Hoogeboom and Jane A. Hurst and David Johnson and Alexis A. Robinson and Peter J. Scambler and Dianne Gerrelli and Peter N{\"u}rnberg and Irene M.J. Mathijssen and Andrew O M Wilkie},
  journal={American journal of human genetics},
  year={2009},
  volume={84 5},
  pages={698-705}
}
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… CONTINUE READING

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