Am J Med Genet. 1983 May; 15(1): 57-65
Langer LO, Nishino R, Yamaguchi A, Ito Y, Ueke T, Togari H, Kato T, Opitz JM, Gilbert EF

We have studied a male Japanese infant with severe upper limb brachymesomelia, glomerulocystic renal dysplasia, abnormalities of the cranium and face, corneal opacities, and a possible congenital heart defect. He was born at term and died on the 10th day of heart and kidney failure. Review of the literature failed to show a similar case. Glomerulocystic renal dysplasia has been reported in association with a variety of the nonskeletal malformations but has not previously been described in association with bony malformations.