MEGALOCORNEA SHOULD BE INVESTIGATED IN CASES WITH HYPOTONIA AND MENTAL RETARDATION: NEUHAUSER SYNDROME--AN EASILY MISSED DIAGNOSIS

Genet Couns. 2015;26(4):443-5.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Cerebral Palsy / complications*
  • Cerebral Palsy / diagnosis*
  • Corneal Diseases / complications*
  • Corneal Diseases / diagnosis*
  • Diagnostic Errors
  • Eye Diseases, Hereditary / complications*
  • Eye Diseases, Hereditary / diagnosis*
  • Female
  • Genetic Diseases, X-Linked / complications*
  • Genetic Diseases, X-Linked / diagnosis*
  • Humans
  • Infant
  • Intellectual Disability / complications*
  • Intellectual Disability / diagnosis*
  • Megalencephaly / complications*
  • Megalencephaly / diagnosis*
  • Muscle Hypotonia / complications
  • Muscle Hypotonia / diagnosis

Supplementary concepts

  • Megalocornea
  • Neuhauser syndrome