Lujan-Fryns syndrome in the differential diagnosis of schizophrenia

Am J Med Genet. 1996 Apr 9;67(2):212-4. doi: 10.1002/(SICI)1096-8628(19960409)67:2<212::AID-AJMG13>3.0.CO;2-M.

Abstract

Schizophrenia is considered to be a heterogenous disorder. Different etiopathological mechanism can be attributed to a similar clinical picture as described in DSM-III-R criteria. We present a case of a young man diagnosed on different occasions as schizophrenic with mild mental retardation. Clinical examination revealed signs and symptoms most compatible with the diagnosis of Lujan-Fryns syndrome, an X-linked mental retardation syndrome with marfanoid features, frequently associated with psychotic or other psychiatric symptoms. In all patients with symptoms of schizophrenia and mental retardation Lujan-Fryns syndrome should be considered in the differential diagnosis.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Abnormalities, Multiple / psychology
  • Adult
  • Diagnosis, Differential
  • Face / abnormalities
  • Hand Deformities, Congenital
  • Humans
  • Intellectual Disability / diagnosis*
  • Intellectual Disability / psychology
  • Male
  • Schizophrenia / diagnosis*
  • Syndrome