BALLER-GEROLD-SYNDROME ASSOCIATED WITH CONGENITAL PORTAL VENOUS MALFORMATION

We report a 4 year old boy in whom the clinical features of craniosyno stosis and bilateral absent radii led to a diagnosis of Baller-Gerold syndrome. Additional congenital abnormalities included midface hypopla sia, atrial and ventricular septal defects, right hydronephrosis, part ial sacral agenesis, and anterior ectopic anus. Evidence of portal ven ous hypertension was present from 8 months and a congenital portal ven ous malformation was discovered at 2 years. This is the first reported case of Baller-Gerold syndrome associated with a congenital portal ve nous malformation, We discuss the diagnostic confusion between this sy ndrome and other overlapping malformation syndromes and propose optima l evaluation strategies aimed at clarifying the nosology of these synd romes.