Osteogenesis Imperfecta Congenita: Five cases and review of the literature.
- Author:
Pyung Kil KIM
1
;
Chang Jun COE
;
Dong Shik CHIN
;
Byung Sook CHOI
Author Information
- Publication Type:Original Article
- MeSH: Child, Preschool; Female; Human; Infant, Newborn; Karyotyping; Male; Osteogenesis Imperfecta/congenital*; Osteogenesis Imperfecta/genetics; Osteogenesis Imperfecta/radiography
- From:Yonsei Medical Journal 1970;11(1):45-53
- CountryRepublic of Korea
- Language:English
- Abstract: Recently, five cases of osteogenesis imperfecta have been observed at Severance Hospital, Yonsei University. Two newborn females, two female children (one year and eight months, five years and a male child (five years and four months) were typical examples with multiple bone fractures, blue sclerae, and deformity of extremities. The mother of case 3 has also had blue sclera but no history of bone fracture. In case 1, a chromosome study was done because the infant had a short neck, low set ears and a high arched palate besides typical signs of steogenesis imperfecta of which result was found as normal karyotype. In case 3, the patient also presented the rachitic changes of the long bones and ribs and exhibited congenital agenesis of the right kidney. In case 4, the blue sclera was questionable. Three cases on1y have been reported prior to this study in Korea. We are presenting another five cases of osteogenesis imperfecta congenita, its pathology and a brief review of the literature.
