Hydrocephalus, skeletal anomalies, and mental disturbances in a mother and three daughters: a new syndrome.
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.
Ferlini
A
A
Divisione di Neurologia, Arcispedale S. Anna, Ferrara, Italy.
Ragno
M
M
Gobbi
P
P
Marinucci
C
C
Rossi
R
R
Zanetti
A
A
Milan
M
M
Camera
G
G
Calzolari
E
E
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