SEVERE BRAIN AND LIMB DEFECTS WITH POSSIBLE AUTOSOMAL RECESSIVE INHERITANCE - A SERIES OF 6 CASES AND REVIEW OF THE LITERATURE

Six fetuses with normal chromosomes were found to have severe craniofa cial, limb, and visceral malformations during the second trimester of pregnancy, Two of these fetuses were monozygotic twins while a third o ne had a healthy dizygotic twin brother, A case with familial recurren ce was also observed, Autopsy and skeletal radiographs suggested sever al diagnoses such as neural tube defect with limb defects or XK aprose ncephaly. The development of these severe conditions in monozygotic tw ins and familial recurrence emphasize the difficulties of genetic coun seling in such situations, These cases may suggest autosomal recessive inheritance. (C) 1997 Wiley-Liss. Inc.