Literature DB >> 8723050

Lujan-Fryns syndrome in the differential diagnosis of schizophrenia.

M De Hert1, D Steemans, P Theys, J P Fryns, J Peuskens.   

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.

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Year:  1996        PMID: 8723050     DOI: 10.1002/(SICI)1096-8628(19960409)67:2<212::AID-AJMG13>3.0.CO;2-M

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  5 in total

Review 1.  Specific genetic disorders and autism: clinical contribution towards their identification.

Authors:  David Cohen; Nadège Pichard; Sylvie Tordjman; Clarisse Baumann; Lydie Burglen; Elsa Excoffier; Gabriela Lazar; Philippe Mazet; Clément Pinquier; Alain Verloes; Delphine Héron
Journal:  J Autism Dev Disord       Date:  2005-02

2.  A nondegenerate code of deleterious variants in Mendelian loci contributes to complex disease risk.

Authors:  David R Blair; Christopher S Lyttle; Jonathan M Mortensen; Charles F Bearden; Anders Boeck Jensen; Hossein Khiabanian; Rachel Melamed; Raul Rabadan; Elmer V Bernstam; Søren Brunak; Lars Juhl Jensen; Dan Nicolae; Nigam H Shah; Robert L Grossman; Nancy J Cox; Kevin P White; Andrey Rzhetsky
Journal:  Cell       Date:  2013-09-26       Impact factor: 41.582

3.  Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation.

Authors:  Patrick S Tarpey; F Lucy Raymond; Lam S Nguyen; Jayson Rodriguez; Anna Hackett; Lucianne Vandeleur; Raffaella Smith; Cheryl Shoubridge; Sarah Edkins; Claire Stevens; Sarah O'Meara; Calli Tofts; Syd Barthorpe; Gemma Buck; Jennifer Cole; Kelly Halliday; Katy Hills; David Jones; Tatiana Mironenko; Janet Perry; Jennifer Varian; Sofie West; Sara Widaa; John Teague; Ed Dicks; Adam Butler; Andrew Menzies; David Richardson; Andrew Jenkinson; Rebecca Shepherd; Keiran Raine; Jenny Moon; Yin Luo; Josep Parnau; Shambhu S Bhat; Alison Gardner; Mark Corbett; Doug Brooks; Paul Thomas; Emma Parkinson-Lawrence; Mary E Porteous; John P Warner; Tracy Sanderson; Pauline Pearson; Richard J Simensen; Cindy Skinner; George Hoganson; Duane Superneau; Richard Wooster; Martin Bobrow; Gillian Turner; Roger E Stevenson; Charles E Schwartz; P Andrew Futreal; Anand K Srivastava; Michael R Stratton; Jozef Gécz
Journal:  Nat Genet       Date:  2007-08-19       Impact factor: 38.330

Review 4.  Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus).

Authors:  Griet Van Buggenhout; Jean-Pierre Fryns
Journal:  Orphanet J Rare Dis       Date:  2006-07-10       Impact factor: 4.123

5.  Lujan-Fryns Syndrome (LFS): A Unique Combination of Hypernasality, Marfanoid Body Habitus, and Neuropsychiatric Issues, Presenting as Acute-Onset Dysphagia.

Authors:  Abidullah Khan; Mohammad Humayun; Iqbal Haider; Maimoona Ayub
Journal:  Clin Med Insights Case Rep       Date:  2016-12-04
  5 in total

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