Article
The cognitive and behavioural phenotype of Roifman syndrome.
Journal of intellectual disability research : JIDR - 1 Sept 2006
de Vries P J, McCartney D L, McCartney E, Woolf D, Wozencroft D
Abstract excerpt
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...
Topics
- Child
- Child Behavior
- Cognition
- Facies
- Growth Disorders
- Humans
- Immunologic Deficiency Syndromes
- Intelligence Tests
- Male
- X-Linked Intellectual Disability
- Neuropsychological Tests