Martínez-Frías M L, Frías J L, Vazquez I, Fernández J
Estudio Colaborativo Español de Malformaciones Congenitas (ECEMC), Facultad de Medicina, Universidad Complutense de Madrid, Spain.
Am J Med Genet. 1991 Apr 1;39(1):34-7. doi: 10.1002/ajmg.1320390109.
We report on 3 Spanish sibs with the Bartsocas-Papas syndrome. This appears to be the seventh reported family; all but one of them are of Mediterranean origin. We propose that a generalized vascular disruption is the most likely pathogenetic mechanism for the anomalies found in this syndrome.
