HYDROCEPHALUS, SKELETAL ANOMALIES, AND MENTAL DISTURBANCES IN A MOTHER AND 3 DAUGHTERS - A NEW SYNDROME

We report on a family in which a mother and her 3 daughters have delay ed psychomotor development and/or psychosis, hydrocephalus with white matter alterations, arachnoid cysts, skeletal anomalies consisting of brachydactyly, and Sprengel anomaly, Biochemical and cytogenetic analy ses were normal on all 4 patients, The pattern of inheritance, clinica l manifestations, and variability of expression suggest that this is a new hydrocephalus syndrome possibly transmitted as an X-linked domina nt trait. (C) 1995 Wiley-Liss, Inc.