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; L Moore; M R Del Bigio; D MacGregor; B Ben-Zeev; K Hodgkinson; J Deck; T Stothers; S Ritchie; A Toi

doi:10.1002/ajmg.1320520404

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?

Am J Med Genet. 1994 Oct 1;52(4):406-15. doi: 10.1002/ajmg.1320520404.

Authors

D Chitayat¹, L Moore, M R Del Bigio, D MacGregor, B Ben-Zeev, K Hodgkinson, J Deck, T Stothers, S Ritchie, A Toi

Affiliation

¹ Prenatal Diagnosis Program, Toronto Hospital, Ontario, Canada.

PMID: 7538262
DOI: 10.1002/ajmg.1320520404

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.

MeSH terms

Adult
Brain / abnormalities
Brain / pathology
Brain Diseases / complications
Brain Diseases / embryology
Brain Diseases / etiology
Child
Dandy-Walker Syndrome / complications*
Dandy-Walker Syndrome / diagnostic imaging
Dandy-Walker Syndrome / etiology*
Developmental Disabilities / complications
Facial Bones / abnormalities
Facial Bones / embryology
Female
Humans
Magnetic Resonance Imaging
Male
Pregnancy
Skull / abnormalities
Skull / embryology
Ultrasonography, Prenatal