A male patient aged 35 was referred for pharmacological treatment of temper tantrums and impulsivity. His history showed feeding problems, growth retardation, delayed milestones, special educational needs and poor social skills. As a child he underwent surgical correction for hemicryptorchidism and benign thymoma. From the age of 19 he was employed in a sheltered workshop. He married at the age of 33.

The patient presented with complaints about lowered mood, anxieties, worrying and impulsivity. Neuropsychiatric evaluation revealed symptoms of a mild depression. His total IQ was 74 (WAIS). There were attention difficulties, slow information processing and increased distractibility. Somatic examination demonstrated a short stature, facial dysmorphias and broad thumbs and toes. Because of this combination of features he was examined by a clinical geneticist. A definite diagnosis of Rubenstein-Taybi syndrome (RTS) was established. The patient was given maintenance treated with citalopram in a dose of 20mg daily after which the mild symptoms of depression disappeared and the impulsivity ameliorated.

RTS has been mapped to 16p13.3 and its diagnosis is primarily clinical. It has been suggested that patients with RTS have an increased vulnerability for neuroleptic induced motor side effects. A great variety of somatic anomalies such as cryptorchidism and tumours, like in this case, may be present. Reports on psychopathology in adulthood are scarce and comprise mood disorders and obsessive compulsive spectrum disorders.

From this case report it is concluded that patients who present with lower intelligence and dysmorphias should always be examined for the possibility of a genetic syndrome.