RTTN

Clinical Characteristics

Neurologic:

  • Microcephaly
  • Lissencephaly
  • Pachygyria
  • Polymicrogyria
  • Craniosynostosis
  • Cerebral hypoplasia
  • Cerebellar hypoplasia
  • Dysgenesis of the corpus callosum
  • Malformed ventricles
  • Subependymal gray-matter heterotopias

Other:

  • Primordial dwarfism
  • Renal ectopia
  • Renal agenesis
  • Hypospadias
  • Cryptorchidism
  • Joint contractures
  • Intestinal atresia
  • Sacral lesions