Chudley-McCullough syndrome: Bilateral sensorineural deafness, hydrocephalus, and other structural brain abnormalities

The Chudley-McCullough syndrome, an autosomal recessive condition first rep orted by Chudley et al, [1997], comprises profound sensorineural hearing lo ss and hydrocephalus secondary to an obstruction of the foramen of Munro, W e describe two more sibs with this condition, One girl had sensorineural he aring loss and hydrocephalus due to obstruction of the foramen of Munro. In cidentally she was also found to carry a full mutation in the FMR1 gene, Th e older sister had profound sensorineural hearing loss and hydrocephalus no t due to obstruction of the foramen of Munro; she also had callosal dysgene sis, gray matter heterotopia, cortical dysplasia, and cerebellar dysgenesis . Thus, the Chudley-McCullough syndrome may include hydrocephalus not neces sarily related to obstruction of the foramen of Munro and other structural brain abnormalities, Am. J, Med. Genet. 90:127-130, 2000. (C) 2000 Wiley-Li ss, Inc.