ABSTRACT
Se realiza la presentación de un caso con osteogénesis imperfecta precoz, con un cuadro clínico grave al nacimiento. Se describen las alteraciones clinicoradiológicas así como anatomopatológicas. Se señala la importancia de la detección intrauterina de esta malformación y se revisa la literatura al respecto
Subject(s)
Infant, Newborn , Adult , Humans , Male , Female , Osteogenesis Imperfecta/congenitalABSTRACT
De acuerdo a la revisión de la Literatura Mundial, la clasificación de la Osteogénesis (OI) se basa en la diferencia clínicas, radiológicas y bioquímicas encontrados en los pacientes estudiados, (10,23,29,30), por lo que se considera como una Heterogeneidad genética. Se presenta el primer caso de OI diagnosticado en un Recién Nacido en el Hospital Central "Luis Ortega" Porlamar, quien al momento del nacimiento presentaba fracturas de origen intrauterino, huesos wormianos y escleras azules; su evolución y la presencia de Dentinogénesis Imperfecta
Subject(s)
Infant, Newborn , Humans , Male , Female , Osteogenesis Imperfecta/congenital , Osteogenesis Imperfecta/diagnosisABSTRACT
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.