MASA syndrome: ultrasonographic evidence in a male fetus.

The recent identification of a common etiology among MASA syndrome (McKusick 303300), X-linked hydrocephalus (HSAS) (McKusick 307000) and other related neurological disorders, which had previously been considered distinct nosological entities, allowed us to diagnose MASA syndrome in a male fetus in a primigravida at the 29th week of gestation by sonographic signs of the MASA spectrum such as hydrocephalus and hypoplasia of corpus callosum. Indeed, the evidence of an X-linked neurological disease in the brother and the maternal uncle of the pregnant women enabled us to estimate a 25% risk of a male fetus being an affected hemizygote. The way in which a prenatal diagnosis, based on instrumental procedures, was reached is described since the authors were unable to perform, at the time of the observation, a molecular confirmation which was carried out only after birth.

[Giant pedunculated clustered uterine fibromyoma in hyaline and cystic degeneration. Limitations of clinical and instrumental diagnosis].

The authors report a case of a 46-year-old woman who was checked by integrated ultrasound examination, i.e. transabdominal and transvaginal, and by abdominopelvic CAT.

[Ultrasonographic monitoring of the endometrium in post-menopausal women asymptomatic or undergoing hormone replacement therapy].

This study evaluated the reliability of ultrasonography in the post-menopausal period for the screening of endometrium pathology in women who are non-symptomatic or undergoing hormone replacement therapy. A total of 152 women were examined, 76 were non-symptomatic and 76 were undergoing estro-progestational therapy. As in previous studies on the subject, we took 0.

[Severe anomaly of fetal limbs after early and failed voluntary interruption of pregnancy].

The authors report the case of a patient who underwent a failed legal abortion at the 7th week of pregnancy via vacuum aspiration. A follow-up ultrasound survey done at the 14th week demonstrated the continuance of pregnancy and the presence of a serious fetal deformity consisting of the amelia of the two upper limbs, complete phocomelia of the right lower limb and distal phocomelia of the left lower limb. In the light of recent findings of a high incidence of fetal limb abnormalities in women subjected to chorionic villus sampling, before the 9th week of gestation, the Authors hypothesize that chorionic villus sampling, occurring during the abortion attempt, could probably be the cause of the fetal limb abnormalities in the present case study.

[Pregnancy and labor in a primigravida with Glanzmann's thrombasthenia].

Glanzmann's thrombasthenia is an autosomal, recessive, inherited haemorrhagic disorder due to the lack of the glycoprotein IIb/IIIa (GP IIb/IIIa) complex of the platelet membrane. The disease is characterized by a prolonged bleeding time and by a severe haemorrhagic mucocutaneous diathesis. The only possible antihaemorrhagic therapeutic measure is the infusion of platelet concentrates, but this is almost constantly associated with the production of antibodies against the GP IIb/IIIa complex that lead to the rapid removal of the infused platelets from the circulation.