Marfan's disease, a syndrome of ectopia lentis, skeletal aberrations, and "congenital heart disease," has been reported and reviewed en masse by ophthalmologists and internists. The encompassing term "congenital heart disease," accepted these many years, challenged some clinicians to determine a true classification and a possible pathogenesis of these so-called "congenital hearts." Among the many prominent investigations were the clinical observations and studies of McKusick. McKusick's excellent article summarizes some postulations on the pathogenesis of Marfan's disease as applied to the heart but no mention is made of the eye manifestations of this interesting developmental anomaly.
The following case of Marfan's syndrome is reported because of its unusual nature; unusual in that it not only presented an ophthalmological complication but a unique and distinct dermatological feature which appears to give confirmation to McKusick's postulations and also offers a plausible embryogenesis of ectopia lentis.
Report of a Case
This 16-year-old white boy
KACHELE GE. The Embryogenesis of Ectopia LentisAn Uncommon Dermatological Manifestation. AMA Arch Ophthalmol. 1960;64(1):135-139. doi:10.1001/archopht.1960.01840010137015