In 1939 Marchesani1 described a syndrome consisting of brachydactyly, spherophakia, and glaucoma in four patients. Since then 27 additional patients have been described by various authors. Since no instances of this syndrome have been recorded in the United States, the following study of five patients showing the complete syndrome is reported, with a summary of the genetic findings in the two involved families.
The spherophakia-brachymorphia syndrome, sometimes referred to as Marchesani's syndrome, is characterized by short stature (Fig. 1); short, stubby fingers (Fig. 2), and mental retardation, in conjunction with spherophakia, microphakia, ectopia lentis, index myopia, and glaucoma. In addition, in this study a large atd angle (Fig. 3) was found in the fully developed cases, as well as in heterozygous carriers. The syndrome is hereditary, showing essentially a recessive tendency.
REPORT OF CASES
The following patients with the fully developed syndrome were observed in two families. The numbers
ROSENTHAL JW, KLOEPFER HW. The Spherophakia-Brachymorphia Syndrome. AMA Arch Ophthalmol. 1956;55(1):28-35. doi:10.1001/archopht.1956.00930030030007