A large prospective cohort study in Germany found no statistically significant increase in major birth defects following ...

HSCR occurs as an isolated trait in 70% of patients, is associated with a chromosomal abnormality in 12% of the cases, and with additional congenital anomalies in 18% of the cases.10 – 15 In the ...

The Smith-Lemli-Opitz syndrome (SLOS) is one of the archetypical multiple congenital malformation syndromes. The recent discovery of the biochemical cause of SLOS and ...