Title: [Prenatal diagnosis and vaginal delivery in osteogenesis imperfecta: a case report]

POPLINE Document Number: 315025

Author(s):

de Souza AS
Cardoso AS
de Souza Lima MM

Source citation:

Revista Brasileira de Ginecologia e Obstetricia, 2006 Apr;28(4):244-250.

Abstract:

Osteogenesis imperfecta is a connective tissue disorder due to quantitative and qualitative anomalies in type 1 collagen, genetically transmitted by a dominant or recessive autosomal gene, leading to bone fragility. We report a case of a 19-year old G1PO patient referred to our institution following a screening ultrasound that demonstrated short limb fetal extremities. A level 3 scan was performed which evidenced an irregular cranial shape and compression of the cephalic pole with moderate transducer pressure. Limb shortening, decreased echoes and fractures of long bones were found on our scan evaluation. A vaginal delivery occurred at 35 weeks of gestation. The male newborn, weighing 1.990 grams had 6 and 8 in Apgar scores. The neonate was clearly abnormal, presenting irregular cranial shape, with poor ossification on X-ray, blue sclera, fractures and limb deformities. Postnatal evaluation was satisfactory and the neonate was discharged in good conditions. Prenatal diagnosis is important for an adequate pregnancy follow-up. Postnatal outcome was not related to vaginal delivery, as there were no recent fractures in the newborn. (author's)

Keywords:

Research Report
Case Studies
Pregnant Women
Infant
Ultrasonics
Examinations and Diagnoses
Neonatal Diseases and Abnormalities
Hereditary Diseases
Childbirth
Studies
Research Methodology
Population Characteristics
Demographic Factors
Population
Youth
Age Factors
Medical Procedures
Medicine
Health Services
Delivery of Health Care
Health
Diseases
Pregnancy Outcomes
Pregnancy
Reproduction