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Baller-Gerold syndrome associated with congenital portal venous malformation Savarirayan R; Tomlinson P; Thompson EJ Med Genet 1998[Sep]; 35 (9): 767-9We 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.|*Abnormalities, Multiple/diagnosis[MESH]|*Cardiovascular Abnormalities/diagnosis[MESH]|*Craniosynostoses[MESH]|*Syndrome[MESH]|Anal Canal/abnormalities[MESH]|Child, Preschool[MESH]|Diagnosis, Differential[MESH]|Heart Defects, Congenital[MESH]|Humans[MESH]|Hydronephrosis[MESH]|Male[MESH]|Portal Vein/*abnormalities[MESH]|Sacrum/abnormalities[MESH]|Thumb/abnormalities[MESH] |
