Phaver Syndrome

Powell et al. (1993) described 2 sibs with vertebral, radial, congenital heart, and ear defects. The second born had limb pterygia and meningomyelocele. Some of the abnormalities in these 2 sibs occur in the VATER association; however, distinguishing these cases were pterygia, meningomyelocele, and probable autosomal recessive inheritance. Powell et al. (1993) proposed the acronym PHAVER syndrome for pterygia, heart defects, autosomal recessive inheritance, vertebral defects, ear anomalies, and radial defects. The sibs, a male and a female, were the offspring of young, healthy, nonconsanguineous parents. The girl had correction of aortic coarctation at the age of 2 months. The disorder in the male was diagnosed in utero and the pregnancy was interrupted.