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In a pregnant woman without increased genetic risk, the presence of distrophic dysplasia of the fetus was diagnosed sonographically at 31 weeks' gestation and definitively distinguished from other skeletal dysplasias. In all prenatal diagnosis of diastrophic dysplasia reported so far, this autosomal recessive congenital condition had occurred in the family's previous children and this made the diagnoses of fetal diastrophic dysplasia easier. The reported case was diagnosed due to evidence of an extreme shortening of all long bones of the extremities associated with other skeletal deformities which, taken as a whole, are typical of this syndrome: micrognathia, cervical kyphosis, persistent extension limitation in elbow and knee joints, club feet, ulnar diviation of hands, shortened phalanges, and, in particular, abduction of thumbs ('hitchhiker thumbs') and big toes.

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The serum valproic acid levels of 18 maternity patients at the time of delivery were compared with the valproic acid levels in the umbilical cord serum. The levels in the umbilical cord serum were 1.1-4.6 times higher than those in the maternal serum, with a mean value of 1.38. One explanation for this difference apparently is an increased protein binding of valproic acid in the infant's serum. Protein binding was determined in nine patients, in six by equilibrium dialysis and in three by ultrafiltration. The median value of the free fraction of valproic acid was 9.1% (range, 5.8-16.4%) in the umbilical cord serum (equilibrium dialysis) and 15% (range, 12.7-35.3%) in the maternal serum. The difference between the infant and the maternal serum is significant.