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ARTICLE |

Cranio-Carpo-Tarsal Dysplasia:  Report of a Case in Father and Son

F. Clarke Fraser, MD, PhD, DSc, FRSC; Hermine Pashayan, MD; Manuel E. Kadish, MD
JAMA. 1970;211(8):1374-1376. doi:10.1001/jama.1970.03170080062018.
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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.

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