de Vries P J, McCartney D L, McCartney E, Woolf D, Wozencroft D
Developmental Psychiatry Section, University of Cambridge, UK.
J Intellect Disabil Res. 2006 Sep;50(Pt 9):690-6. doi: 10.1111/j.1365-2788.2006.00817.x.
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.
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.
In spite of having been reported as appearing intellectually 'able', formal evaluation showed very significant intellectual disability and neuropsychological impairment across cognitive domains.
The findings suggest that Roifman syndrome may be an example of an X-linked mental retardation syndrome (XLMRS).
罗夫曼综合征（OMIM 300258）是一种多系统疾病，其身体表型包括β细胞免疫缺陷、宫内和出生后生长发育迟缓、脊椎骨骺发育不良、视网膜营养不良以及特征性面部畸形。迄今为止，文献中已报道了6例病例，均为男性。罗夫曼推测该综合征可能是由于X连锁基因或常染色体基因发生突变，导致出现限性性状，但确切的发病机制仍未阐明。关于罗夫曼综合征的认知和行为表型知之甚少，且尚未有关于认知能力的标准化测量报告。
我们报告了第7例罗夫曼综合征男性病例，并首次对该综合征患者的认知和行为表型进行了系统记录。
尽管曾有报道称该患者智力“正常”，但正式评估显示其存在非常严重的智力残疾以及各认知领域的神经心理损害。
这些发现表明，罗夫曼综合征可能是X连锁智力发育迟缓综合征（XLMRS）的一个例子。
