title: Baller-Gerold syndrome associated with congenital portal venous malformation.
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.
authors.affiliation: South Australian Clinical Genetics Service, Women's and Children's Hospital, North Adelaide.
authors.forename: R
authors.initials: R
authors.lastname: Savarirayan
authors.forename: P
authors.initials: P
authors.lastname: Tomlinson
authors.forename: E
authors.initials: E
authors.lastname: Thompson
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis; D001003:Anal Canal / Q000002:abnormalities; D018376:Cardiovascular Abnormalities / Q000175:diagnosis; D002675:Child, Preschool; D003398:Craniosynostoses; D003937:Diagnosis, Differential; D006330:Heart Defects, Congenital; D006801:Humans; D006869:Hydronephrosis; D008297:Male; D011169:Portal Vein / Q000002:abnormalities*; D012447:Sacrum / Q000002:abnormalities; D013577:Syndrome; D013933:Thumb / Q000002:abnormalities