Craniosynostosis associated with intracranial calcification: a novel recessive syndrome.

@article{Longman2003CraniosynostosisAW,
  title={Craniosynostosis associated with intracranial calcification: a novel recessive syndrome.},
  author={Cheryl Longman and Margo Whiteford and David Andrew Koppel and Malcolm David Cairns Donaldson and Wendy F Paterson and J. Tolmie},
  journal={Clinical dysmorphology},
  year={2003},
  volume={12 4},
  pages={215-20}
}
We report three siblings who were variably affected by craniosynostosis, calcification of the basal ganglia, and mild facial dysmorphism comprising prominent eyes and a prominent nasal bridge. The children are of normal intelligence and have no limb abnormalities. Their parents are first cousins and are phenotypically normal. We propose that this… CONTINUE READING