Neurologic and psychometric findings in the Brachmann-de Lange-syndrome. Neuropadiatrie 3 : 46-66 (1971). A muiltidisciplinary 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 8O°/o of the patients were severely or profoundly retarded. The four patient's 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 Detailed investigations of the cause of apparent neurologic disabilineuropsychologic manifestations of ties, mental retardation, and occasionthe BRACHMANN-DE LANGE-syndrome al behavioral disturbances in patients (BDLS) have not been reported to with the BDLS; at the same time, date. Neurologists, psychologists, and these consultants are impressed by the psychiatrists are at times consulted be-frequently striking additional mani-

The statistical analysis of phenotypic data available on 180 cases of the Brachmann-de Lange syndrome (BDLS), (161 previously published, 19 personally studied) documented the incomplete nature of most case reports, and the fact that investigators are more likely to mention abnormal traits than normal traits in their reports; it did not uncover evidence of (etiologically pertinent) heterogeneity of the BDL phenotype. The finding of a C-autosomal ring in one of our patients and the available genetic and cytogenetic data are discussed in the context of the hypothesis that the BDLS is recessively inherited and that the homozygous state of this incompletely recessive gene predisposes to early zygotic chromosome breakage and/or chromosome loss which is lethal in most cases. The hypothesis of autosomal recessive inheritance is further strengthened by the discovery of a new BDL case (PM) at Central Wisconsin Colony in Madison (courtesy Dr. E. G. Kaveggia); this 35-year-old woman was the product of an uncle/niece marriage.

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