Cranio-Carpo-Tarsal Dysplasia
- 23 February 1970
- journal article
- research article
- Published by American Medical Association (AMA)
- Vol. 211 (8) , 1374-1376
- https://doi.org/10.1001/jama.1970.03170080062018
Abstract
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.Keywords
This publication has 3 references indexed in Scilit:
- Cranio-carpo-tarsal Dysplasia or The Whistling Face SyndromeAmerican Journal of Diseases of Children, 1969
- The “whistling face” characteristic in a compound cranio-facio-corporal syndromeBritish Journal of Plastic Surgery, 1963
- Cranio-carpo-tarsal dystrophyArchives of Disease in Childhood, 1938