Hydrocephalus, skeletal anomalies, and mental disturbances in a mother and three daughters: a new syndrome

American Journal of Medical Genetics
A FerliniE Calzolari

Abstract

We report on a family in which a mother and her 3 daughters have delayed psychomotor development and/or psychosis, hydrocephalus with white matter alterations, arachnoid cysts, skeletal anomalies consisting of brachydactyly, and Sprengel anomaly. Biochemical and cytogenetic analyses were normal on all 4 patients. The pattern of inheritance, clinical manifestations, and variability of expression suggest that this is a new hydrocephalus syndrome possibly transmitted as an X-linked dominant trait.

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Citations

Jan 24, 2019·Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery·Xiaowei QinXinyu Hong

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