Spinal dysraphia as an autosomal dominant defect in four families

摘要: Four families were selected randomly on the basis of occurrence spina bifida cystica and/or occulta in one or more family members. Sixty-three relatives studied clinically and roentgenologically; their roentgenograms evaluated blindly. Twenty-eight roentgenologically normal; 35 diagnosed as having (SBO), (SBC), vertebral anomalies, external defects usually interpreted evidence for SBO. Excluding proband we found frequency SBO to be 19/51 (37%) all types spinal/vertebral (excluding five probands) 30/58 (52%). The distribution these four was analyzed using likelihood methods corrected random ascertainment. The log values sporadic, recessive, dominant models −26.69, −20.95, −18.90, respectively, indicating a higher autosomal inheritance than sporadic recessive inheritance. penetrance probability this model, estimated by maximum likelihood, is 0.749 ± 0.100. Further examination data suggests that SBC represent different expressions same gene kindreds.