New evidence for genetic heterogeneity of the Freeman-Sheldon syndrome
- 1 November 1986
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 25 (3) , 507-511
- https://doi.org/10.1002/ajmg.1320250312
Abstract
We report on two sibs (a boy and a girl) with the Freeman‐Sheldon (FS) syndrome (also called cranio‐carpo‐tarsal “dysplasia” or whistling face syndrome), born to normal parents. This unusual finding may represent genetic heterogeneity, germinal mutation of an autosomal dominant gene, and an epistatic recessive gene that supressed the expression of the abnormal gene in the father, his parents being first cousins. The last 2 mechanisms seem less probable.Keywords
This publication has 7 references indexed in Scilit:
- Freeman-Sheldon (whistling face) syndrome in a Turner mosaic.Journal of Medical Genetics, 1984
- Genetic heterogeneity in the Freeman-Sheldon syndrome: two adults with probable autosomal recessive inheritanceJournal of Medical Genetics, 1984
- Autosomal Recessive Type of Whistling Face Syndrome in TwinsPediatrics, 1982
- The distal arthrogryposes: Delineation of new entities – review and nosologic discussionAmerican Journal of Medical Genetics, 1982
- Recessive form of Freeman-Sheldon's syndrome or 'whistling face'.Journal of Medical Genetics, 1977
- Cranio-carpo-tarsal Dysplasia or The Whistling Face SyndromeAmerican Journal of Diseases of Children, 1969
- Cranio-carpo-tarsal dystrophyArchives of Disease in Childhood, 1938