title: Hydrocephalus, skeletal anomalies, and mental disturbances in a mother and three daughters: a new syndrome.
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.
authors.affiliation: Divisione di Neurologia, Arcispedale S. Anna, Ferrara, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Ferlini
authors.forename: M
authors.initials: M
authors.lastname: Ragno
authors.forename: P
authors.initials: P
authors.lastname: Gobbi
authors.forename: C
authors.initials: C
authors.lastname: Marinucci
authors.forename: R
authors.initials: R
authors.lastname: Rossi
authors.forename: A
authors.initials: A
authors.lastname: Zanetti
authors.forename: M
authors.initials: M
authors.lastname: Milan
authors.forename: G
authors.initials: G
authors.lastname: Camera
authors.forename: E
authors.initials: E
authors.lastname: Calzolari
mesh_terms: D000293:Adolescent; D000328:Adult; D001842:Bone and Bones / Q000002:abnormalities*; D005190:Family; D005260:Female; D006801:Humans; D006849:Hydrocephalus / Q000000981:diagnostic imaging / Q000235:genetics*; D008607:Intellectual Disability / Q000235:genetics*; D010375:Pedigree; D011859:Radiography; D013577:Syndrome