The "D" Syndrome

PATAU ET AL, in 1960, described an infant with multiple anomalies associated with an additional chromosome in the 13-15 group.1The anomalies were severe and included anophthalmia, cleft lip and palate, supernumerary digits, a ventricular septal defect, and horseshoe kidney. Cases have since been reported from other medical centers with a very similar pattern of congenital malformations.2-10Further cases have also been reported by Patau and his co-workers,11,12who have made a special study of this syndrome, and they have reviewed their cases and other cases from the literature.13Trisomy of a 13-15 group chromosome and its characteristic pattern of congenital anomalies are now referred to as the "D" syndrome. Patau14has stressed that chromosomes of the 13-15 group cannot be distinguished from one another. For this reason Therman et al11suggested this pattern of anomalies be called the D1syndrome in view