Oral-facial-digital syndrome type IX in a patient with Dandy-Walker malformation.

  title={Oral-facial-digital syndrome type IX in a patient with Dandy-Walker malformation.},
  author={Koichi Nagai and Michinobu Nagao and S. Yanai and Kyoko Minagawa and Yuji Takahashi and Yasuo Takekoshi and Akitoshi Ishizaka and Yoshihiro Matsuzono and Osamu Kobayashi and Taroh Itagaki},
  journal={Journal of medical genetics},
  volume={35 4},
We report a girl with oral, facial, and digital anomalies including multiple alveolar frenula, lobulated tongue with nodules, a posterior cleft palate, hypertelorism, a prominent forehead with a large anterior fontanelle, and postaxial polydactyly in both hands and the right foot, features compatible with the oral-facial-digital syndrome (OFDS). In addition, she had bilateral microphthalmia, optic disc coloboma, and retinal degeneration with partial detachment, thus establishing a diagnosis of… CONTINUE READING