[Holt-Oram syndrome and portal extrahepatic hypertension. A case report].

[holt-oram syndrome]

The Holt-Oram syndrome (HOS ) is characterized by skeletal abnormalities , frequently accompanied by congenital cardiac defects . It was first described by Holt and Oram in 1960 . It has a prevalence of 0 .95 /10 ,000 live newborns . The syndrome shows a dominant autosomic heritance with high penetrance . A mutation in the transcription gene factor TBX 5 has been identified . This factor has been shown to be important in the heart and upper extremities development .A 17 year -old boy with muscle -skeletal abnormalities in forearms and hands , with implantation defects of thumbs and narrow shoulders as well as wide atrial septal defect type osteum secundum . He also showed portal cavernomatosus degeneration which conditioned portal extrahepatic hypertension and esophageal varicose veins . The diagnosis was established by clinical , radiological and auxiliary studies . His parents were also studied , and they did not show abnormalities .Two previous cases have been reported in the Mexican medical literature , both due to de novo genetic mutation . However , none has been associated with portal cavernomatosus degeneration and portal hypertension .