FRYNS-SYNDROME PHELLOTYPE AND TRISOMY-22

Trisomy 22 was detected in a 32-week-old fetus born to an overweight m other with hypertension. Severe intrauterine growth retardation was as sociated with phenotypic manifestations of Fryns syndrome: diaphragmat ic hernia, facial defects, and nail hypoplasia with short distal fifth phalanges. This is the second report of congenital diaphragmatic hern ia in trisomy 22. This case demonstrates the importance of karyotyping malformed fetuses or newborns, even if a nonchromosome syndrome seems identifiable on clinical grounds. To date, at least 10 cases of Fryns syndrome have been reported without chromosome analysis. (C) 1996 Wil ey-Liss, Inc.