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February 23, 1970

Cranio-Carpo-Tarsal DysplasiaReport of a Case in Father and Son

Author Affiliations

From the departments of medical genetics (Drs. Fraser and Pashayan) and radiology (Dr. Kadish), Montreal Children's Hospital, and the Department of Genetics, Human Genetics Sector, McGill University, Montreal (Dr. Fraser).

JAMA. 1970;211(8):1374-1376. doi:10.1001/jama.1970.03170080062018

The features of whistling face syndrome as it appeared in a father were compared with those found in his infant son. The syndrome is inherited as an autosomal dominant trait. Sporadic cases presumably represent fresh mutations, and will transmit the mutant gene to about half of their children. Siblings of sporadic cases, on the other hand, will have a very low risk of being affected.