Clinical, Dermatoglyphic and Chromosomal Study of Waardenburg's Syndrome

The chromosomal and dermatoglyphic studies were carried out on nine cases of Waardenburg's syndrome. 1) The shortening of the palpebral fissures on the horizontal direction (blepharophimosis), at first glance, gives the characteristic impression. Out of 9 patients 3 were without this feature. 2) We supported Feingold et al. s view that the whole characteristic features of Waardenburg's syndrome were not present at birth in some cases and either appeared or disappeared during their life. 3) All the depigmented sides of iridis were not parts of the affected deafness. 4) Two patients were born from parents over thirty years old. The pregnancies of all patients were of full term and normal in 5 individuals, and there was no low-birth-weight baby at full term. 5) With regard to complication, there was only one individual who was clinically diagnosed as interventricular septal defect. 6) The chromosomal constitution was definitely normal. 7) The dermatoglyphic analyses in patients and their families revealed that the frequencies in both the arch patterns and the simian lines were increased, and that those in the total ridge counts were decreased. The frequencies in the right third interdigital loop and the right thenar loop were higher in patients than in normal.