Roberts/pseudothalidomide syndrome and normal intelligence: approaches to diagnosis and management

Roberts/pseudothalidomide syndrome is a rare autosomal recessive disorder, involving growth and mental retardation, midline craniofacial abnormalities and tetraphocomelia. Cytogenetic studies have confirmed reproducible chromosomal abnormalities throughout the syndrome's wide range of clinical presentations. A family with two affected siblings is presented. One child was stillborn; the other, though severely affected by all of the physical characteristics of this disorder, has developed normally both at school and in his social-personal skills. This report supports the idea that Roberts syndrome and pseudothalidomide syndrome are the same condition, and emphasizes that normal intelligence and positive social-personal adjustment are possible, even with all of the stigmata of Roberts syndrome. Aggressive medical intervention is suggested, as well as forthright parental counselling when discussing the possible outcome for these patients.