11/21. Dichorionic twins discordant for thanatophoric dysplasia managed with selective reduction at 20 weeks' gestation: a case report.BACKGROUND: thanatophoric dysplasia (TD) is a rare and lethal form of skeletal disorder. A medline search for 1965-2003 yielded only 3 reports of multiple pregnancies discordant for TD. This is the first case report of selective twin reduction for this diagnosis. CASE: A young woman was seen in consultation at 20 weeks' gestation. Ultrasound examination revealed a twin pregnancy, with ultrasound markers consistent with thanatophoric dysplasia, type II, in twin A. A thick dividing membrane and separated placentas were noted. After counseling, the patient opted for selective termination of twin A. Termination was performed by intracardiac injection of potassium chloride. The pregnancy continued uneventfully until 33 weeks, when spontaneous labor resulted in vaginal delivery of a vigorous female infant, and a mummified, macerated fetus. CONCLUSION: Selective termination for discordant lethal anomalies can be safely performed when the presence of the anomalous twin increases the risk of a poor perinatal outcome for the apparently normal cotwin.- - - - - - - - - - ranking = 1keywords = gestation, pregnancy (Clic here for more details about this article) |
12/21. Prenatal sonographic diagnosis of thanatophoric dwarfism.A case of thanatophoric dwarfism is reported in a 35-year-old woman. The diagnosis was made at 34 weeks gestation by ultrasound. Marked shortening of the extremities, macrocephaly, narrow thorax and polyhydramnios were observed. The importance of routine ultrasound screening in pregnancy is emphasized, since such malformations can be detected prenatally.- - - - - - - - - - ranking = 0.21374828556554keywords = gestation, pregnancy (Clic here for more details about this article) |
13/21. First-trimester diagnosis of fetal abnormalities. A report of three cases.First-trimester sonography is used extensively for dating pregnancy and in conjunction with chorionic villus sampling. It is crucial to examine the fetus carefully, even at this early stage, since some fetal abnormalities are detectable in the first trimester. In three cases encephalocele, thanatophoric dwarf and cystic hygroma were diagnosed with sonography in the first trimester.- - - - - - - - - - ranking = 0.022913809275895keywords = pregnancy (Clic here for more details about this article) |
14/21. Temporal-lobe abnormalities in thanatophoric dysplasia.We identified distinctive and characteristic abnormalities in the hippocampal formations of 4 individuals with thanatophoric dysplasia (TD), one of whom was a fetus of 19 weeks gestational age. Primitive medial fissures in this subject could be identified, but development of the dentate gyrus and organization of the pyramidal layer in the hippocampal formation were abnormal. We infer that temporal-lobe dysmorphogenesis in TD begins between 11.5 weeks gestational age, when hippocampal and fimbriodentate fissure formation takes place, and 13.5 weeks gestational age, when differential proliferation and migration of the cells that form the pyramidal layer and the dentate gyrus takes place. Any etiology proposed for TD must not only account for disordered endochondral and endomembranous bone formation but also explain the origins of early temporal-lobe dysplasia.- - - - - - - - - - ranking = 0.57250342886893keywords = gestation (Clic here for more details about this article) |
15/21. The importance of early prenatal diagnosis of thanatophoric dysplasia with respect to obstetric management.A case is described in which prenatal diagnosis of thanatophoric dysplasia was made in the second trimester of pregnancy by ultrasonography and radiography. early diagnosis allowed elective abortion to be carried out, thus avoiding possible complications later in the pregnancy.- - - - - - - - - - ranking = 0.045827618551789keywords = pregnancy (Clic here for more details about this article) |
16/21. prenatal diagnosis of Jeune syndrome.We describe two sibs affected with Jeune syndrome. The first was diagnosed after birth and the second was diagnosed prenatally using ultrasonography. The detected abnormalities were confirmed by X-ray and autopsy following pregnancy termination. This observation indicates the possibility of prenatal diagnosis of the condition.- - - - - - - - - - ranking = 0.022913809275895keywords = pregnancy (Clic here for more details about this article) |
17/21. infant with thanatophoric dwarfism in triplet pregnancy.The case of a Japanese female infant with thanatophoric dwarfism, a triplet, is reported. The diagnosis was made at 18 weeks' gestation. triplets were delivered at 30 weeks' gestation by cesarean section. Two infants, both males, were normal; the female with dwarfism died of respiratory distress 34 min after delivery. This is the first known case of one fraternal triplet being affected by thanatophoric dwarfism.- - - - - - - - - - ranking = 0.47332418968286keywords = gestation, pregnancy (Clic here for more details about this article) |
18/21. Radiological and histological variants of thanatophoric dysplasia are associated with common mutations in FGFR-3.We describe two fetuses of the 21st week of gestation that share some macroscopic, radiologic, and histologic findings of thanatophoric dysplasia (TD), but also show distinct differences from the usual subtypes of TD. These differences mainly comprise the lack of facial abnormality, only mild reduction of chondrocyte proliferation and hypertrophy, and the lack of fibrous tissue interposition between cartilage and periosteal bone. Thus, these two cases may represent a distinct variant of thanatophoric dysplasia. The molecular analysis of the FGF-R-3 gene demonstrated in both cases mutations which were not significantly different from those of other cases of TD. Thus, the phenotypic modulation within the subtypes of TD may be influenced by additional and yet unknown factors.- - - - - - - - - - ranking = 0.19083447628964keywords = gestation (Clic here for more details about this article) |
19/21. Antenatal sonographic diagnosis of thanatophoric dysplasia: a report of three cases and a review of the literature with special emphasis on the differential diagnosis.A series of three cases is reported in which the diagnosis of thanatophoric dysplasia was reached at routine mid-trimester scanning in a District General Hospital. All three patients underwent termination of pregnancy with the diagnosis of thanatophoric dysplasia confirmed by postmortem radiographic and histological examinations. A review of the current literature on thanatophoric dysplasia is given, with special emphasis on the differentiation of the main types of thanatophoric dysplasia from other skeletal abnormalities.- - - - - - - - - - ranking = 0.022913809275895keywords = pregnancy (Clic here for more details about this article) |
20/21. Second trimester diagnosis of thanatophoric dysplasia.thanatophoric dysplasia is one of the most common skeletal dysplasia, with an incidence from 1:6,400 to 1:100,000 births. While the etiology is unknown, either autosomal recessive or polygenic transmission with 0.2% recurrence risk had been suggested. It is a lethal disorder characterized by extremely short ribs, tubular bones and macrocephaly. death is often secondary to pulmonary hypoplasia caused by the small thoracic cavity. We present a fetus with shortening of four limbs, typical thanatophoric dwarfism, diagnosed by sonography at the 25th week of gestation. The second trimester diagnosis by ultrasound was crucial, because it gave an alternative option of pregnancy termination when the affected fetus was discovered.- - - - - - - - - - ranking = 0.21374828556554keywords = gestation, pregnancy (Clic here for more details about this article) |
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