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?
- 1 October 1994
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 52 (4) , 406-415
- https://doi.org/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.Keywords
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