1/36. prenatal diagnosis of a novel COL1A1 mutation in osteogenesis imperfecta type I carried through full term pregnancy.prenatal diagnosis was performed in a family where the father has osteogenesis imperfecta (OI) type I, with a novel mutation in the COL1A1 gene: a C to T change at position c3076 (c.3076C-->T) leading to a change of arginine at codon 848 to a stop codon (R848X). prenatal diagnosis by chorionic villous sampling (CVS) was performed during the fourth pregnancy, and revealed that the fetus is a carrier of the same COL1A1 mutation. The possibility of phenotypic variability was discussed with the parents. They elected to carry the pregnancy to term, and a male child with mild OI was born. This is the first reported case where OI was diagnosed prenatally, and the parents opted to carry the pregnancy to term. It illustrates the potential use of dna-based analysis for early prenatal diagnosis of OI, and the complexities of genetic counselling.- - - - - - - - - - ranking = 1keywords = pregnancy (Clic here for more details about this article) |
2/36. A case of chondrodysplasia punctata with features of osteogenesis imperfecta type II.The osteogenesis imperfecta syndromes constitute a group of heterogeneous, heritable skeletal dysplasias. Of the 4 types, type II is the most severe, with an incidence of 1 per 55,000. It is characterized by malformed bones secondary to abnormal collagen type i synthesis. Affected fetuses are divided into 3 groups: A, B, and C. All groups have long bones described as "wrinkled" or "crumpled" secondary to repeated fractures. Many bones also show evidence of demineralization, which is especially evident in the bones of the face and calvaria. In groups A and C, the chest is generally small, with thickened and shortened ribs, and each rib has characteristic "beading" patterns secondary to repeated fracturing. Sonography has traditionally been successful in the diagnosis of osteogenesis imperfecta at an early gestational age. chondrodysplasia punctata describes a heterogeneous group of skeletal disorders characterized by abnormal mineralization of bones during gestation. There are many different causes of it, but some of the specific subtypes include rhizomelic, X-linked dominant (also known as Conradi-Hunermann syndrome), X-linked recessive, and tibia-metacarpal. We report a case of severe X-linked dominant chondrodysplasia punctata, which sonographically had common features with osteogenesis imperfecta type II.- - - - - - - - - - ranking = 1.0429661554419keywords = gestation (Clic here for more details about this article) |
3/36. osteogenesis imperfecta in pregnancy: two case reports and review of literature.osteogenesis imperfecta (OI) is an inherited disease where basic pathology is of defective maturation of collagen. It is more common in women, and the incidence in pregnancy is 1 in 25,000 to 30,000. A multidisciplinary approach is necessary. Ideally, genetic counseling is sought before conception. Once pregnant, prenatal diagnosis can be established by chorion villous sampling. Serial scans would identify the affected fetus with fractures. A cesarean delivery is advocated if the fetus is affected or if the mother has pelvic fractures. An experienced anesthetist should be involved. Because these women are more likely to have a postpartum hemorrhage due to uterine atony, Syntocinon infusion and close observation in the third stage is indicated.- - - - - - - - - - ranking = 0.71428571428571keywords = pregnancy (Clic here for more details about this article) |
4/36. Active pre-term management of severe osteogenesis imperfecta.Some of the advantages of using an intra-amniotic injection of urea combined with prostaglandins for mid trimester termination include an extremely high success rate, a mean time of approximately 10 hours and delivery of a dead fetus. The successful application of this method for the active pre-term management of patients in whom severe fetal abnormality, such as that reported here, suggests this technique of inducing abortion and labour deserves further consideration in those special circumstances where the obstetrician is anxious that the pregnancy should be interrupted despite the gestation length and where a live birth should not occur.- - - - - - - - - - ranking = 0.6643402205781keywords = gestation, pregnancy (Clic here for more details about this article) |
5/36. First-trimester diagnosis of osteogenesis imperfecta associated with encephalocele by conventional and three-dimensional ultrasound.To illustrate the three-dimensional sonographic features of a rare genetic disorder, we report on prenatal diagnosis of osteogenesis imperfecta congenita associated with encephalocele at 13 weeks of gestation, using conventional and three-dimensional ultrasound. Because the parents were first-degree cousins and on the basis of the family history, a recessive autosomal inheritance was suspected. Of seven previous pregnancies, five were unaffected and two had been terminated in the second trimester owing to a similar abnormality (one affected boy and one affected girl). In the case we present, the diagnosis was made on the basis of two-dimensional ultrasound performed by physicians aware of the history; the quality of three-dimensional ultrasound imaging suggests that this technique might have contributed toward establishing a precise diagnosis in the absence of a positive family history. Besides, the global view provided by three-dimensional surface-rendering images made the parents more confident of the accuracy of the diagnosis. Although osteogenesis imperfecta congenita is generally considered as autosomal dominant, the case we report suggests that it may be inherited in a recessive autosomal fashion at least when associated with encephalocele. Three-dimensional ultrasound confirmed the conventional two-dimensional examination and was helpful in convincing the parents of the accuracy of the diagnosis.- - - - - - - - - - ranking = 0.52148307772095keywords = gestation (Clic here for more details about this article) |
6/36. Radiographic, haematological, and biochemical findings in a fetus with Caffey disease.An early case of prenatal Caffey disease is reported. Ultrasound examination performed at 20 weeks showed major angulations of long bones, but both ultrasound scan and x-rays failed to make the differential diagnosis between Caffey disease and lethal osteogenesis imperfecta. A cordocentesis allowed us to find important biological abnormalities. The pregnancy was terminated after the rapid development of hydrops fetalis. The definitive diagnosis of Caffey disease was obtained by special X-ray and pathological study.- - - - - - - - - - ranking = 0.14285714285714keywords = pregnancy (Clic here for more details about this article) |
7/36. osteogenesis imperfecta and Ebstein's anomaly: a case report with autopsy findings.osteogenesis imperfecta is an inherited disorder of collagen synthesis. It has a wide range of phenotypic expressions, but cardiovascular anomalies tend to be rare. When they do occur, they usually consist of aortic or mitral valve disease. We report an autopsy case of a 36-week gestation infant with coexisting osteogenesis imperfecta and Ebstein's anomaly. The simultaneous occurrence of two relatively rare entities may reflect a generalized expression of an underlying collagen synthesis defect.- - - - - - - - - - ranking = 0.52148307772095keywords = gestation (Clic here for more details about this article) |
8/36. Collagen content and growth factor immunoexpression in uterine lower segment of type IA osteogenesis imperfecta: Relationship with recurrent uterine rupture in pregnancy.OBJECTIVE: The purpose of this study was to evaluate collagen content and platelet-derived growth factor, vascular endothelial growth factor, and connective tissue growth factor expression in the myometrium of the uterine lower segment from a patient with type IA osteogenesis imperfecta with recurrent uterine rupture and to evaluate the existence of a relationship between the rare recurrent uterine rupture and the tissue disorders of type IA osteogenesis imperfecta. STUDY DESIGN: Collagen content and platelet-derived growth factor, vascular endothelial growth factor, and connective tissue growth factor expression in the uterine lower segment were assessed in the patient with type IA osteogenesis imperfecta and in eight otherwise healthy ("control") patients. RESULTS: Type IA osteogenesis imperfecta contained less total collagen amount, with no difference in type III collagen expression and showed increased levels of platelet-derived growth factor and vascular endothelial growth factor in myometrial smooth muscle cells. No difference was observed in connective tissue growth factor expression. CONCLUSION: These findings confirm the diminished collagen amount in myometrium from osteogenesis imperfecta and show the presence of additional pathogenetic mechanisms. A relationship is hypothesized between the underlying myometrial biochemical modifications and the recurrent uterine rupture.- - - - - - - - - - ranking = 0.57142857142857keywords = pregnancy (Clic here for more details about this article) |
9/36. anencephaly in a fetus with osteogenesis imperfecta: early diagnosis by transvaginal sonography.Early prenatal diagnosis of osteogenesis imperfecta at 14 weeks' gestation by transvaginal sonography is reported. An anencephalic fetus was found at autopsy, although on sonographic examination complete brain tissue had been observed. A possible explanation for these findings and theories on the pathogenesis of anencephaly are discussed.- - - - - - - - - - ranking = 0.52148307772095keywords = gestation (Clic here for more details about this article) |
10/36. Congenital osteogenesis imperfecta associated with arteriopathia calcificans infantum.A 25-year-old mother during pregnancy was treated by accident with clomifen (Clostilbegyt). Ultrasound scan, performed in the 32nd gestational week, showed polyhydramnion and abnormally short, deformed fetal limbs. The newborn male infant died 20 minutes after caesarean section. autopsy revealed osteogenesis imperfecta accompanied by a rare vascular alteration i.e. arteriopathia calcificans infantum. The possible relationship between the two diseases and estrogen therapy is discussed.- - - - - - - - - - ranking = 0.6643402205781keywords = gestation, pregnancy (Clic here for more details about this article) |
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