Brachydactyly, Peculiar Facies and Mental Retardation

The Rubinstein-Taybi syndrome.

“…These impressions were confirmed by the reports of the nursing staff and correspond with the observations of others (Rubinstein and Taybi, 1963;Coffin, 1964;Robinson et al, 1966).…”

“…A large 16th chromosome has been observed in other normal individuals (Court Brown, Jacobs, and Brunton, 1965). Chromatography of the amino acids in plasma and great toes, they did not exclude the possibility and urine showed normal patterns in 4 patients.…”

The transcriptional coactivator and histone acetyltransferase CBP regulates neural precursor cell development and migration

“…Previous studies suggested an essential role of CBP in neural differentiation [2, 65]. This is supported by the few existing neuropathological reports of autopsies of RSTS patients, which all describe altered cortical neuron morphology with cells appearing less differentiated and smaller [13, 18, 49]. An effect of CBP on neuron morphology has recently been demonstrated in a similar conditional mouse model using the Nestin promoter, which is in line with our observations [15].…”

On the Association of Broad Thumbs and First Toes With Other Physical Peculiarities and Mental Retardation

“…)n's (1966), were said to have liroad thumbs without otiier a[)parent anomalies. Abnormalities found in the families of our sul)jects (see lable 1), which had previously been observed in other families, include mongolism in one of Coffin's cases (1964) and one of Johnson's (19fi6), albinism (in one of Coffin's, 1964), heart defect (in one of Johnson's, 1966) and epilepsy (in one of Rubenstein & Tayl)i's, 1963). A relative with intellectual defect, as opposed to mental illness, has been noted occasionally.…”