Osteogenesis Imperfecta Congenita: Five cases and review of the literature
Yonsei Medical Journal
;
: 45-53, 1970.
Artículo
en Inglés
| WPRIM
| ID: wpr-188186
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.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Osteogénesis Imperfecta
/
Cariotipificación
Límite:
Child, preschool
/
Femenino
/
Humanos
/
Masculino
/
Recién Nacido
Idioma:
Inglés
Revista:
Yonsei Medical Journal
Año:
1970
Tipo del documento:
Artículo
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