Journal of Medical Genetics

Abstract

One of the more common chromosomal abnor-malities which has been well delineated and docu-mented is trisomy of an E group chromosome. Since the first report of this syndrome by Edwards et al. (1960) and also by Patau et al. (1960), data on this anomaly have accumulated rapidly, and most cases are diagnosed on clinical features-only to be confirmed by chromosome analysis. The pitfalls in diagnosis have been recently described by Taylor (1968) who analysed 27 cases of E and 27 of D tri-somy in detail. A high degree of overlap between the two conditions is evident, and in this report only one feature (webbed neck) finally emerged as one stigmata not found in D trisomy as well. One of the anomalies that has only rarely been reported in the E trisomy is tracheo-oesophageal (T-E) fistula. We wish to report two cases ofEdwards syndrome that were seen at Columbus Children's Hospital in March 1969. These infants were referred to our surgical service because of multiple congenital anomalies, including oesophageal atresia and T-E fistulas. In both cases, the diagnosis of trisomy 18 was confirmed by chromosome analysis. Case Reports Case 1. This female child was born to a 33-year-old gravida 5 para 5 mother at 37 weeks ' gestation, at which time the infant was delivered by caesarian section be-cause of placenta praevia. The pregnancy was compli-cated by polyhydramnios. The infant was given a one-minute Apgar score of 4 and needed respiratory assistance. The birthweight was 1474 g. At less than 24 hours of age, the infant was transferred to Columbus Children's Hospital because of multiple congenital anomalies, respiratory distress, and suspected oesopha-geal atresia and T-E fistula. On physical examination she was found to be in moderate distress, with a pulse rate of 180/min. and respiration of 60/min. Crown-heel length was 46 cm. and head circumference 31 cm. The baby had 'peculiar ' facies and a head which appeared