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. 1998 Sep;35(9):767–769. doi: 10.1136/jmg.35.9.767

Baller-Gerold syndrome associated with congenital portal venous malformation.

R Savarirayan 1, P Tomlinson 1, E Thompson 1
PMCID: PMC1051431  PMID: 9733037

Abstract

We report a 4 year old boy in whom the clinical features of craniosynostosis and bilateral absent radii led to a diagnosis of Baller-Gerold syndrome. Additional congenital abnormalities included midface hypoplasia, atrial and ventricular septal defects, right hydronephrosis, partial sacral agenesis, and anterior ectopic anus. Evidence of portal venous hypertension was present from 8 months and a congenital portal venous malformation was discovered at 2 years. This is the first reported case of Baller-Gerold syndrome associated with a congenital portal venous malformation. We discuss the diagnostic confusion between this syndrome and other overlapping malformation syndromes and propose optimal evaluation strategies aimed at clarifying the nosology of these syndromes.

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Selected References

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