Characteristics of Cornelia de Lange Syndrome in Chinese Patients

Twenty-two Chinese children diagnosed as having Cornelia de Lange Syndrome were studied. Their main dysmorphic features were as follows. Growth retardation of prenatal onset in all (100%). Initial hypertonicity in all (100%). Low-pitched, weak, growling crying during infancy in all (100%). All of them had microbrachycephaly. All of them (100%) had bushy eyebrows and synophrys. All of them (100%) had prominent and long philtrum. All of them had hirsutism. There was micrognathia in 18 of them (82%); cutis marmorata in 12 (55%); simian crease in 17 (77%); syndactyly in only one of them (5%). Five (23%) had seizure disorders. It is very interesting to note that, although all of them had micromelia, phocomelia had not been found within a five-year-period. Plasma amino acid studies revealed generalized low normal limits, especially those of glycine and methionine. This probably resulted from inadequate intake because of poor general condition, especially during early infancy. Detailed karyotypes of the patients revealed no obvious chromosomal aberrations.