FAMILIAL DANDY-WALKER MALFORMATION ASSOCIATED WITH MACROCEPHALY, FACIAL ANOMALIES, DEVELOPMENTAL DELAY, AND BRAIN-STEM DYSGENESIS - PRENATAL-DIAGNOSIS AND POSTNATAL OUTCOME IN BROTHERS - A NEW SYNDROME
D. Chitayat et al., FAMILIAL DANDY-WALKER MALFORMATION ASSOCIATED WITH MACROCEPHALY, FACIAL ANOMALIES, DEVELOPMENTAL DELAY, AND BRAIN-STEM DYSGENESIS - PRENATAL-DIAGNOSIS AND POSTNATAL OUTCOME IN BROTHERS - A NEW SYNDROME, American journal of medical genetics, 52(4), 1994, pp. 406-415
Brothers are reported with an apparently new constellation of manifest
ations including Dandy-Walker complex (DWC), migrational brain disorde
r, macrocephaly, and facial anomalies. The first brother presented at
birth, the second was detected prenatally with DWC and the pregnancy t
erminated. Fetal brain histopathology showed DWC associated with brain
stem dysgenesis. Inheritance is likely autosomal or X-linked recessive
. An extensive review of the differential diagnosis of DWC is provided
. (C) 1994 Wiley-Liss, Inc.