Nathalie Syndrome

In 4 sibs (one named Nathalie) of a Dutch family reported by Cremers et al. (1975), deafness and cataract were associated with muscular atrophy, retardation in growth and sexual development, and electrocardiographic abnormalities. One was male and 3 female. One had Perthes disease and one had Scheuermann disease. Two were young adults at the time of study.