title: 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?
abstract: Brothers are reported with an apparently new constellation of manifestations including Dandy-Walker complex (DWC), migrational brain disorder, macrocephaly, and facial anomalies. The first brother presented at birth, the second was detected prenatally with DWC and the pregnancy terminated. Fetal brain histopathology showed DWC associated with brainstem dysgenesis. Inheritance is likely autosomal or X-linked recessive. An extensive review of the differential diagnosis of DWC is provided.
authors.affiliation: Prenatal Diagnosis Program, Toronto Hospital, Ontario, Canada.
authors.forename: D
authors.initials: D
authors.lastname: Chitayat
authors.forename: L
authors.initials: L
authors.lastname: Moore
authors.forename: M R
authors.initials: MR
authors.lastname: Del Bigio
authors.forename: D
authors.initials: D
authors.lastname: MacGregor
authors.forename: B
authors.initials: B
authors.lastname: Ben-Zeev
authors.forename: K
authors.initials: K
authors.lastname: Hodgkinson
authors.forename: J
authors.initials: J
authors.lastname: Deck
authors.forename: T
authors.initials: T
authors.lastname: Stothers
authors.forename: S
authors.initials: S
authors.lastname: Ritchie
authors.forename: A
authors.initials: A
authors.lastname: Toi
mesh_terms: D000328:Adult; D001921:Brain / Q000002:abnormalities / Q000473:pathology; D001927:Brain Diseases / Q000150:complications / Q000196:embryology / Q000209:etiology; D002648:Child; D003616:Dandy-Walker Syndrome / Q000150:complications* / Q000000981:diagnostic imaging / Q000209:etiology*; D002658:Developmental Disabilities / Q000150:complications; D005147:Facial Bones / Q000002:abnormalities / Q000196:embryology; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D011247:Pregnancy; D012886:Skull / Q000002:abnormalities / Q000196:embryology; D016216:Ultrasonography, Prenatal