SPLIT HAND SPLIT FOOT, SYNDACTYLY, URINARY-TRACT OBSTRUCTION, RADIAL,DIAPHRAGMATIC, AND NEURAL-TUBE DEFECTS - CZEIZEL-LOSONCI SYNDROME

We report on a baby girl with absence of the left hemidiaphragm, lumbo sacral myelomeningocele, syndactyly with limb deficiencies, and bilate ral hydronephrosis. A similar array of malformations was described pre viously by Czeizel and Losonci [Hum Genet 77:203-204, 1987] in a singl e family which showed a transmission pattern suggesting autosomal domi nant inheritance with variable expressivity. The presence of limb abno rmalities and the location of the neural tube defects in these cases s uggest that the underlying pathogenesis probably does not involve the same disturbances of midline field development which have been postula ted to occur in the schisis association. (C) 1994 Wiley-Liss, Inc.