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The cognitive and behavioural phenotype of Roifman syndrome
Author(s) -
De Vries P. J.,
McCartney D. L.,
McCartney E.,
Woolf D.,
Wozencroft D.
Publication year - 2006
Publication title -
journal of intellectual disability research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.941
H-Index - 104
eISSN - 1365-2788
pISSN - 0964-2633
DOI - 10.1111/j.1365-2788.2006.00817.x
Subject(s) - intellectual disability , cognition , fragile x syndrome , neuropsychology , psychology , phenotype , medicine , clinical psychology , psychiatry , genetics , gene , biology
Background Roifman syndrome (OMIM 300258) is a multi‐system disorder with a physical phenotype that includes Β‐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).