SCHINZEL-GIEDION SYNDROME - AUTOPSY REPORT AND ADDITIONAL CLINICAL MANIFESTATIONS

Schinzel-Giedion syndrome (SGS) is a rare and incompletely defined con dition. This is the third postmortem study on a boy with SGS and other unusual findings. He had a primitive neuroectodermal tumor in the lum bosacral region, bilateral syndactyly of hands and feet, and brain ano malies in addition to the major manifestations of the syndrome. We con sider these clinical findings as possible additional manifestations of the syndrome since, of 19 SGS patients reported, 4 had syndactyly and 3 had embryonal tumors. In addition, the 3 published necropsy studies report brain anomalies. Knowledge that these changes occur in SGS may help facilitate diagnosis and improve our understanding of the syndro me. (C) 1994 Wiley-Liss, Inc.