title: The cognitive and behavioural phenotype of Roifman syndrome.
abstract: BACKGROUND
  Roifman syndrome (OMIM 300258) is a multi-system disorder with a physical phenotype that includes Beta-cell immunodeficiency, intra-uterine and postnatal growth retardation, spondyloepiphyseal dysplasia, retinal dystrophy and characteristic facial dysmorphism. So far, six cases, all boys, have been reported in the literature. Roifman postulated that the syndrome may be due to a mutation in an X-linked gene or an autosomal gene giving rise to a sex-limited trait, but the definitive pathogenetic mechanism has still not been elucidated. Very little is known about the cognitive and behavioural phenotype of Roifman syndrome and no standardized measures of cognitive abilities have been reported.
  
  
  METHODS
  We report the seventh case of a boy with Roifman syndrome and present the first systematic documentation of the cognitive and behavioural phenotype of an individual with the syndrome.
  
  
  RESULTS
  In spite of having been reported as appearing intellectually 'able', formal evaluation showed very significant intellectual disability and neuropsychological impairment across cognitive domains.
  
  
  CONCLUSIONS
  The findings suggest that Roifman syndrome may be an example of an X-linked mental retardation syndrome (XLMRS).
authors.affiliation: Developmental Psychiatry Section, University of Cambridge, UK. pd215@cam.ac.uk
authors.forename: P J
authors.initials: PJ
authors.lastname: de Vries
authors.forename: D L
authors.initials: DL
authors.lastname: McCartney
authors.forename: E
authors.initials: E
authors.lastname: McCartney
authors.forename: D
authors.initials: D
authors.lastname: Woolf
authors.forename: D
authors.initials: D
authors.lastname: Wozencroft
mesh_terms: D002648:Child; D002652:Child Behavior / Q000523:psychology*; D003071:Cognition / Q000502:physiology*; D019066:Facies; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics*; D007361:Intelligence Tests / Q000706:statistics & numerical data; D008297:Male; D038901:X-Linked Intellectual Disability / Q000175:diagnosis* / Q000523:psychology; D009483:Neuropsychological Tests / Q000706:statistics & numerical data; D010009:Osteochondrodysplasias / Q000235:genetics*; D010641:Phenotype; D012164:Retinal Diseases / Q000235:genetics; D013577:Syndrome