Autosomal recessive syndrome of sacral and conotruncal developmental field defects (Kousseff syndrome).
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.
D000015:Abnormalities, Multiple / Q000235:genetics*; D005808:Genes, Recessive; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008591:Meningomyelocele / Q000235:genetics*; D012447:Sacrum; D013577:Syndrome