Two trisomy 22 live births in one hospital in 15 months: is it as rare as we thought?

We report two cases of complete non-mosaic trisomy 22 who were born within 15 months of each other in KwaZulu Natal, South Africa. In an effort to consolidate diagnostic criteria to suspect trisomy 22 prior to chromosomal testing, we compare the clinical features of these infants with those of 23 other trisomy 22 live borns presented in the literature. We further compare the clinical phenotype of trisomy 22 with those of trisomies 13 and 18 to delineate a clinical picture to presume possible trisomy 22 soon after birth. Dysmorphic features which distinguish trisomy 22 from trisomy 13 and 18 include hypertelorism, long philtrum, long and thin upper lip, webbing of the neck, low set, wide spread nipples and an abnormal anus. Given the poor prognosis of this disorder and early mortality of most confirmed cases, non-aggressive versus aggressive treatment measures should be weighed up as soon after birth as possible.