A little-known syndrome has been observed in recent years in six white children from scattered localities and unrelated families. The children are small in size and backward in mental development: they have characteristic facies, lax muscles and joints, abnormally wide thumbs and first toes, and a variety of other anomalies. Recently, Rubinstein and Taybi1 have described several cases of the same syndrome. Since our patients resemble theirs in many details, a presentation of our clinical findings should help to gain wider recognition of Rubinstein's syndrome, and may add certain features, especially the frequent presence of congenital heart disease. An additional reason for calling attention to this syndrome is the fact that all of our patients were visibly abnormal at birth: physicians who encounter these neonates can begin to plan for the ensuing retardation of development.
Each patient was studied fully. The history emphasized questions regarding illnesses and injuries in
COFFIN GS. Brachydactyly, Peculiar Facies and Mental Retardation. Am J Dis Child. 1964;108(4):351–359. doi:https://doi.org/10.1001/archpedi.1964.02090010353004
Customize your JAMA Network experience by selecting one or more topics from the list below.
Create a personal account or sign in to: