Search

Short rib polydactyly syndrome (SRPS) is a group of skeletal dysplasias manifested by short-limb dwarfism, short ribs with thoracic dysplasia and polydactyly. SRPS is an inherited autosomal-recessive disorder with different prenatal sonographic and postnatal clinical, histological and radiologic findings. SRPS type 1 (Saldino-Noonan) and type 3 (Verma-Naumoff) are very similar and frequently get mixed. In this report, we present a case of SRPS with hydrops, thoracic hypoplasia, short limbs and postaxial polydactyly in a 27-week fetus. The visceral findings in the fetus including the central nervous system were normal. The karyotype was 46XY. The prenatal diagnosis was thought to be type 1 because of the absence of fibulae at ultrasonography. However, postmortem autopsy, histologic, and radiologic findings were reviewed and the diagnosis was type 3 SRPS because of absence of visceral anomalies, presence of fan-shaped iliac bones and short tubular bones with metaphyseal widening. We concluded that detailed ultrasonography performed in the prenatal period is very important in the diagnosis and differential diagnosis of SRPS. [ABSTRACT FROM AUTHOR]

The aim of the study was to assess the depth of myometrial invasion and cervical involvement by endometrial cancer using preoperative 6.5-MHz, high-frequency transvaginal ultrasonography as compared with postoperative assessment using histopathological examination. The study included 47 patients with histologically proven cancers of the endometrium. All patients underwent transvaginal sonography before surgery. The depth of myometrial invasion was classified as none, inner half of the uterine wall, and outer half of the uterine wall. Cervical spread is recorded as positive or negative. Of 36 (76.6%) patients with proven myometrial invasion, 33 cases (91.66%) were revealed by sonography. Histologically proven cervical invasion that correlated with sonography was shown in 3 patients (75%). In 7 patients (14.9%) ultrasonography could not correctly predict the depth of myometrial invasion. The depth of invasion was underestimated in 4 (8.5%) cases and overestimated in 3 (6.4%) cases. Preoperative assessment of invasion of the uterine wall and cervical spread by transvaginal ultrasonography had an accuracy of 85 and 97.8% if correlated with the definitive histopathological examination. The role of transvaginal ultrasonography in preoperative assessment of the depth of myometrial invasion and cervical involvement in patients with endometrial cancer needs to be studied further before making reliable conclusions. [ABSTRACT FROM AUTHOR]