Bartsocas-Papas syndrome: three familial cases from Spain.
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.
Martínez-Frías
M L
ML
Estudio Colaborativo Español de Malformaciones Congenitas (ECEMC), Facultad de Medicina, Universidad Complutense de Madrid, Spain.
Frías
J L
JL
Vazquez
I
I
Fernández
J
J
D005145:Face / Q000002:abnormalities*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D011625:Pterygium / Q000235:genetics*; D013030:Spain; D013577:Syndrome