Craniofacial dyssynostosis with cryptorchidism and normal stature.

  title={Craniofacial dyssynostosis with cryptorchidism and normal stature.},
  author={Nadia Al-Torki and Mohamed Ahmed Sabry and Asma A. Al-Tawari and Nouf Al-Kandari and Sadica A Al-Awadi},
  journal={American journal of medical genetics},
  volume={79 1},
We describe an Arab boy with craniofacial dyssynostosis. He presented with facial anomalies, mental retardation, epilepsy, hypotonia, and agenesis of the corpus callosum. This report reemphasises the previously reported traits of craniofacial dysostosis syndrome and suggests that cryptorchidism represents part of the syndrome profile and that the presence of normal stature does not preclude the diagnosis.