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July 1978

The Coffin-Siris Syndrome

Author Affiliations

Center for Genetic Counseling and Birth Defect Evaluation New England Medical Center Hospital 20 Ash St Boston, MA 02111

Am J Dis Child. 1978;132(7):660-661. doi:10.1001/archpedi.1978.02120320020003

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The Coffin-Siris syndrome is no humbug! Therefore, the practicing pediatrician should add this syndrome to the already long list of syndromes he has to consider when evaluating a child with mental retardation. Because the pediatrician in practice cannot remember all the existing syndromes (neither can the "syndromologist"), it is important that he has an organized approach to the differential diagnosis of such children.

The first step is to do a thorough

See also p 667. history and physical examination. A genetic history should be a routine part of the initial history done by a pediatrician on all patients. Since it is time consuming, we recommend that before the child is seen by the pediatrician the parents fill out a genetic history form including a family pedigree. This not only saves time but it is usually more accurate as it provides the family an opportunity to discuss the "family tree" with

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