THOMAS SYNDROME - POTTER SEQUENCE WITH CLEFT-LIP PALATE AND CARDIAC ANOMALIES

Holzgreve et al, [Am J Med Genet 18:177-184, 1984] first reported on a syndrome including renal anomalies, heart defect, polydactyly, and cl eft palate with other oropharyngeal anomalies. We report here on four sibs with renal adysplasia associated in two with cardiovascular malfo rmations and cleft Lip or cleft palate in two. We propose that these p atients as the two siblings reported by Thomas et al, [Am J Med Genet 45:767-769, 1993] are affected with a syndrome different of the one de scribed by Holzgreve et al. [Am J Med Genet 18:177-184, 1984] mainly b ecause of the absence of polydactyly. Thomas syndrome is probably inhe rited as an autosomal recessive trait with marked variability. (C) 199 6 Wiley-Liss, Inc.