Prenatal diagnosis of lethal osteogenesis imperfecta in twin pregnancy
- 28 June 1991
- journal article
- case report
- Published by Wiley in Clinical Genetics
- Vol. 39 (6) , 467-470
- https://doi.org/10.1111/j.1399-0004.1991.tb03059.x
Abstract
Lethal osteogenesis imperfecta was diagnosed at 27 weeks amenorrea in one fetus of a bichorial twin pregnancy. Sonographic findings included: short‐limb dwarfism, hypotrophy and hypoechoic bones. The affected fetus was so translucent that only the normal fetus could be seen on plain in utero radiography. The affected fetus died immediately after birth. Postmortem radiography and histology were typical of lethal osteogenesis imperfecta of type IIA. Aids to the etiological diagnosis of in utero dwarfism are presented. Sonographic features correlated with neonatal death are described.Keywords
This publication has 6 references indexed in Scilit:
- Energy-dispersive X-ray diffraction tomographyPhysics in Medicine & Biology, 1990
- Genetic Counselling in Perinatally Lethal and Severe Progressively Deforming Osteogenesis ImperfectaAnnals of the New York Academy of Sciences, 1988
- Ultrasonic ratio of fetal thoracic to abdominal circumference: An association with fetal pulmonary hypoplasiaAmerican Journal of Obstetrics and Gynecology, 1987
- Syndrome of camptodactyly, ankyloses facial anomalies, and pulmonary hypoplasia (Pena-Shokeir syndrome): Obstetric and ultrasound aspectsAmerican Journal of Obstetrics and Gynecology, 1985
- Osteogenesis imperfecta type II delineation of the phenotype with reference to genetic heterogeneityAmerican Journal of Medical Genetics, 1984
- Prenatal diagnosis of lethal perinatal osteogenesis imperfecta (OI Type II)The Journal of Pediatrics, 1982