A Case of Perinatal Lethal Osteogeenesis Imperfecta.
- Author:
Sung Lyul JANG
;
Yong Soo CHO
;
Byung Wan KIM
;
Sung Ryul HONG
;
Jung Yup PARK
;
Yoon Jung PARK
;
Jong Hak LEE
- Publication Type:Case Report
- Keywords:
Osteogenesis imperfecta
- MeSH:
Connective Tissue;
Dentition;
Fractures, Bone;
Hearing Loss;
Osteogenesis Imperfecta;
Sclera;
Ultrasonography
- From:Korean Journal of Perinatology
1997;8(1):55-59
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Osteogenesis imperfecta is a rare congenital disease. It is a heterogeneous group of inherited disorders characterized by multiple bone fracture, blue sclera, hearing loss, abnormalities of dentition and widespread connective tissue ahnormality. We experienced a case of osteogenesis imperfecta diagnosed in utero by ultrasonogram and confirmed hy postnatal radiograph after delivery. We present the case with a hrief review of the literature.