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Am J Med Genet. 1994 Oct 1;52(4):406-15.

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?

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

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.

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PMID:
7538262
DOI:
10.1002/ajmg.1320520404
[Indexed for MEDLINE]
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