THE OCCURRENCE of spherophakia, ectopia lentis, brachydactylia, and short stature was first reported by Weill in 1932.1 Recognition of these stigmata as a syndrome and their common pathogenesis was established in 1939 by Marchesani.2 Prior to 1955, all that was written about this disease entity appeared in the French and German literature. Since then, several reports have appeared in English publications. We have had the opportunity to study one patient with this disorder and to perform various histologic and metabolic studies not previously described. The occurrence of subluxated lenses in the pediatric age group is rarely an isolated phenomenon; therefore, its relationship to disturbances in the development of stature is stressed.
Report of a Case
A 9½-year-old white boy was referred to the metabolic service of the University of Chicago, Department of Pediatrics, by his family physician. He presented a symptom complex of short stature, peculiar body structure