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.
Child, Preschool ; Female ; Human ; Infant, Newborn ; Karyotyping ; Male ; Osteogenesis Imperfecta/congenital* ; Osteogenesis Imperfecta/genetics ; Osteogenesis Imperfecta/radiography

One-year-old male Persian cat presented with multiple fractures and no known traumatic history. Marked decrease of bone radiopacity and thin cortices of all long bones were identified on radiography. Tentative diagnosis was osteogenesis imperfecta, a congenital disorder characterized by fragile bone. To determine bone mineral density (BMD), quantitative computed tomography (QCT) was performed. The QCT results revealed a mean trabecular BMD of vertebral bodies of 149.9 ± 86.5 mg/cm³. After bisphosphonate therapy, BMD of the same site increased significantly (218.5 ± 117.1 mg/cm³, p < 0.05). QCT was a useful diagnostic tool to diagnose osteopenia and quantify response to medical treatment.
Animals ; Bone Density ; Bone Diseases, Metabolic ; Cats* ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Diagnosis ; Fractures, Multiple ; Humans ; Male ; Osteogenesis Imperfecta ; Osteogenesis* ; Radiography

The early and accurate antenatal diagnosis of fetal musculoskeletal malfomations with a poor outcome has important implications for the management of a pregnancy. Careful ultrasonographic examination of a fetus helps detect such anomalies, and a number of characteristic features may suggest possible differential diagnoses. During the last five years, we have encountered 39 cases of such anomalies, and the typical prenatal ultrasonographic and pathologic findings of a number of those are described in this article.
Chondrodysplasia Punctata/diagnosis ; Female ; Fetal Diseases/*diagnosis ; Human ; Musculoskeletal Abnormalities/*diagnosis/radiography/ultrasonography ; Osteogenesis Imperfecta/diagnosis ; Pregnancy ; Pregnancy Outcome ; *Prenatal Diagnosis ; Thanatophoric Dysplasia/diagnosis ; *Ultrasonography, Prenatal

We reviewed clinical manifestation of 12 patients from three Korean families. They showed mild to moderate bone fragility, and suggested an autosomal dominant inheritance pattern. Significant intrafamilial phenotype variability was obvious. Clinical, radiological, and histopathologic characteristics that distinguished this subtype from others include ossification of interosseous membrane of the forearm with radial head dislocation, hyperplastic callus formation, no evidence of type I collagenopathy and an abnormal histopathologic pattern. Severity of the interosseous membrane ossification was correlated with increasing age (p<0.01) and the radial head dislocation was thought to be a developmental problem rather than a congenital problem. Four children who had bisphosphonate treatment showed improved bone mineral density, radiological changes, and biochemical responses. Osteogenesis imperfecta type V was a distinctive subtype of osteogenesis imperfecta, which caused mild to moderate disability clinically.
Range of Motion, Articular ; Pedigree ; Osteogenesis Imperfecta/genetics/*pathology/physiopathology ; Middle Aged ; Male ; Infant ; Humans ; Fractures, Bone/radiography ; Female ; Family Health ; Dislocations/radiography ; Child, Preschool ; Child ; Bone and Bones/abnormalities/*radiography ; Aged ; Adult

Osteogenesis imperfecta (OI) is a group of genetic disorders characterized by bone fragility and connective tissue manifestations. We report a successful liver transplantation (LT) in an 8-month-old boy with OI and cholestatic biliary cirrhosis. After 4 cycles of intravenous pamidronate, LT was performed under intravenous anesthesia using a left lateral section from his mother without mechanical retractors. The operation time was 420 min and estimated blood loss was 520 mL requiring one unit of RBC transfusion. He was discharged without surgical complications. Therefore, LT should be considered for patients with end stage liver disease and OI under organic multidisciplinary cooperation.
Bone Density ; Bone Density Conservation Agents/therapeutic use ; Cholestasis, Intrahepatic/*diagnosis ; Diphosphonates/therapeutic use ; Fractures, Bone/drug therapy/etiology/radiography ; Humans ; Infant ; *Liver Transplantation ; Living Donors ; Male ; Osteogenesis Imperfecta/complications/*surgery