Split hand/split foot, syndactyly, urinary tract obstruction, radial, diaphragmatic, and neural tube defects: Czeizel-Losonci syndrome?

摘要: We report on a baby girl with absence of the left hemidiaphragm, lumbosacral myelomeningocele, syndactyly limb deficiencies, and bilateral hydronephrosis. A similar array malformations was described previously by Czeizel Losonci [Hum Genet 77:203–204, 1987] in single family which showed transmission pattern suggesting autosomal dominant inheritance variable expressivity. The presence abnormalities location neural tube defects these cases suggest that underlying pathogenesis probably does not involve same disturbances midline field development have been postulated to occur schisis association. © 1994 Wiley-Liss, Inc.