Kitoh H, Oki T, Arao K, Nogami H
Central Hospital, Aichi Prefectural Colony, Japan.
Am J Med Genet. 1994 Jul 1;51(3):187-90. doi: 10.1002/ajmg.1320510302.
We report on a boy born to a mother with pseudoachondroplasia and a father with osteogenesis imperfecta (Sillence type III). At birth, the boy was found to have osteogenesis imperfecta type III. Although clinical findings of pseudoachondroplasia were not manifested at the age of 8 months, roentgenographic findings showed characteristics of pseudoachondroplasia in addition to those of osteogenesis imperfecta. He died of respiratory distress at age 15 months.
