Neurologic and Psychometric Findings in the Brachmann-De Lange Syndrome

A multidisciplinary investigation of the BRACHMANN-DE LANGE-syndrome (BDLS) reports neurologic, genetic, electroencephalographic, and psychometric data on 19 subjects. Although findings such as microbrachycephaly, broad-based and poor tandem gait, strabismus, nystagmus, tight heel cords, and dyssynergia of reach were common, there were no pathognomonic neurologic findings. Approximately 20% of the patients had histories of a seizure disorder. IQ scores ranged from 4 to 85, and 80% of the patients were severely or profoundly retarded. The four patients with IQ levels that exceeded 35 had higher birth weights and higher total ridge counts than did the remaining patients. The two patients with head circumference equal to, or greather than, the second percentile for age and sex had IQ scores that substantially exceeded the group mean. In support of previous reports based on smaller numbers of subjects, the present study shows that the degree of associated mental retardation in patients with the BDLS is not necessarily severe and that the BDLS is compatible with survival into adulthood.

Brachmann-de Lange-syndrome - malformation syndrome - mental retardation - seizures and EEG abnormalities