RESUMEN
INTRODUCTION: Osteogenesis imparfecta (OI) comprises a group of disorders principally affecting type I collagen, which result in increased bone fragility. Lethal forms are rare and are characterised by micromelia with malformation of the limbs. CASE REPORT: A prenatal diagnosis of lethal OI was made by ultrasonography at 18 weeks of gestation and therapeutic abortion was indicated. COMMENTS: Molecular biology and genetic studies offer new possibilities of prenatal diagnosis, but ultrasonography remains the investigation of choice. It confirms the diagnosis by revealing an increase in bone transparency.
Asunto(s)
Osteogénesis Imperfecta/diagnóstico , Ultrasonografía Prenatal , Aborto Terapéutico , Adulto , Amniocentesis , Colágeno/genética , Colágeno Tipo I/genética , Cadena alfa 1 del Colágeno Tipo I , Femenino , Asesoramiento Genético , Humanos , Mutación/genética , Osteogénesis Imperfecta/clasificación , Osteogénesis Imperfecta/epidemiología , Osteogénesis Imperfecta/genética , Linaje , Embarazo , Segundo Trimestre del Embarazo , Displasia Tanatofórica/genética , Ultrasonografía Prenatal/métodosRESUMEN
PURPOSE: The purpose of our study was to clarify the frequency of these causes. PATIENTS AND METHODS: Retrospective study using reports of newborns in the neonatal unit in Sousse (Tunisia) from 1991 to 1996, hospitalized for hemorrhagic syndrome defined by bleeding, exteriorized or not, whatever its importance, severity, causes and the associated clinical and biological disorders. Isolated meningeal hemorrhages, limited cutaneo-mucous hemorrhages (conjunctival hemorrhages, bruises), and genital crises of the newborn, were excluded. RESULTS: One hundred and fifty-five hemorrhagic syndromes were observed from 7,128 newborn infants (2.17% of hospitalization). Sex ratio was 1.42. Prematurity rate was 35.7%. The Apgar score was < 7 at one minute in 40.7% of cases. Disorders associated with hemorrhagic syndromes were observed in 118 newborn infants (76.1%) with a predominance of neonatal infections (35.6%). The etiology of neonatal hemorrhages was specified in 93% of cases: newborn hemorrhagic disease (27.7%), disseminated intravascular coagulation (27.1%), isolated thrombocytopenia (9%), digestive lesions (13.5%), and obstetrical trauma (2.6%). CONCLUSION: The frequency of the newborns hemorrhagic syndromes underlines the need for its systematic prevention by vitamin K in the antenatal period to the mother and after birth to the newborn.
