PHAVER SYNDROME - AN AUTOSOMAL RECESSIVE SYNDROME OF LIMB PTERYGIA, CONGENITAL HEART ANOMALIES, VERTEBRAL DEFECTS, EAR ANOMALIES, AND RADIAL DEFECTS

We have studied 2 sibs with vertebral, radial, congenital heart, and e ar defects. The second patient also had limb pterygia and meningomyelo cele. The abnormalities in these two sibs are seen in the VATER associ ation; however, distinguishing these cases from the VATER association are the findings of pterygia, meningomyelocele, and probable autosomal recessive inheritance. We propose the acronym PHAVER syndrome for lim b pterygia, heart defects, autosomal recessive inheritance, vertebral defects, ear anomalies and radial defects. This represents a new autos omal recessive disorder with phenotypic variability. (C) 1993 Wiley-Li ss, Inc.