Pediatria pre prax 6/2015

A case report of family with short stature and „rotten“ teeth

Authors present a case report of 4,5 years old boy with short stature and failure of teeths formation; these symptoms occur dominantly in III consecutive generations in mothers family (patient, her mother, maternal mother). Using detailed anamnestic analysis and particularly from the original medical practitioner pediatrician documentation of mother was found, that she suffered at repeated fractures during neonatal period and infancy, which disappeared with the onset of puberty, her son never had a fracture. Molecular genetic testing revealed causal mutation in COL1A2 gene, thus in the family was confirmed the diagnosis of osteogenesis imperfecta.

Keywords: family history in pediatrics, short stature, amelogenesis (dentinogenesis imperfecta), osteogenesis imperfecta.