Autosomal recessive syndrome of sacral and conotruncal developmental field defects (Kousseff syndrome)
- 1 October 1985
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 22 (2) , 357-360
- https://doi.org/10.1002/ajmg.1320220220
Abstract
Kousseff [1984] reported on three sibs with an autosomal recessive syndrome of sacral meningocele, conotruncal heart defects, and minor anomalies of head and neck. We report on a fourth case and discuss the findings from a developmental field perspective and the ramifications for genetic counseling.Keywords
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