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Am J Med Genet Suppl. 1987;3:357-65.

Recurrent developmental anomalies: 1. Syndrome of hydranencephaly with renal aplastic dysplasia; 2. Polyvalvular developmental heart defect.

Author information

1
Department of Pathology and Laboratory Medicine, College of Medicine, University of Cincinnati, Ohio 45267-0529.

Abstract

We present 2 examples of previously apparently undescribed congenital anomalies that recurred in a subsequent pregnancy. In one case this was a multiple-congenital-anomalies syndrome of hydranencephaly with multinucleated neurons, hypoplastic kidneys, and syndactyly of the second and third toes. The second case involved atrioventricular valve thickening resulting in tricuspid insufficiency and mitral stenosis. These cases suggest that if after a complete autopsy the findings are unprecedented, then the recurrent risk in a subsequent pregnancy may be high. This hypothesis has not been tested prospectively.

PMID:
3130870
[Indexed for MEDLINE]

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