Bone dysplasia in a child born to parents with osteogenesis imperfecta and pseudoachondroplasia.
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.
Kitoh
H
H
Central Hospital, Aichi Prefectural Colony, Japan.
Oki
T
T
Arao
K
K
Nogami
H
H
D000130:Achondroplasia / Q000150:complications; D000328:Adult; D005192:Family Health; D017809:Fatal Outcome; D005260:Female; D030342:Genetic Diseases, Inborn; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010009:Osteochondrodysplasias / Q000235:genetics*; D010013:Osteogenesis Imperfecta / Q000150:complications