Mandibulofacial dysostosis (Treacher-Collins syndrome) in the fetus: novel association with Pectus carinatum in a molecularly confirmed case and review of the fetal phenotype.

Background: Treacher Collins syndrome is the most common mandibulofacial dysostosis of autosomal dominant or, rarely, recessive inheritance. Affected fetuses may be identified by prenatal ultrasound or diagnosed at autopsy in case of perinatal death or pregnancy termination.

Methods: We describe the ultrasonographic, autopsy, and molecular findings in a 25-week-gestation affected fetus, and review the clinical, prenatal, and postmortem findings in 15 previously reported fetal and perinatal cases.

Laparoscopy in the evaluation of women with unexplained ascites: an invaluable diagnostic tool.

Study Objective: To assess whether laparoscopy is a reliable technique for the investigation of women presenting with ascites and in whom the diagnosis remains obscure.

Design: Prospective nonrandomized clinical study (Canadian Task Force classification II-2).

Setting: University Departments of a tertiary referral center.

Rare XXY/XX mosaicism in a phenotypic male with Klinefelter syndrome: case report.

Klinefelter syndrome represents the most commonly found human sex chromosomal abnormality. It is characterized by small, firm testes with hyalinization of the seminiferous tubules, elevated gonadotropins and azoospermia. Males with Klinefelter syndrome may have a 47,XXY or a mosaic 47,XXY/46,XY constitutional karyotype and varying degrees of spermatogenic failure.

Laparoscopic evaluation of infertile patients with chronic pelvic pain.

In this study over a 10-year period, 1584 patients complaining of infertility of more than 1 year duration were evaluated for their laparoscopic findings in relation to the presence or not of chronic pelvic pain (CPP). Infertility was the only complaint in 1215 cases (group 1), whereas 369 patients complained of infertility and CPP (group 2). All cases underwent routine infertility investigation and pelvic ultrasonography, followed by diagnostic laparoscopy, with infertility-only cases acting as a control group.

Endometriosis in patients with chronic pelvic pain: is staging predictive of the efficacy of laparoscopic surgery in pain relief?

Background/aims: Endometriosis is considered an important cause of chronic pelvic pain. Despite its high prevalence, controversy still exists regarding the true association between the extent of endometriosis and the severity of symptoms. We conducted this prospective study to investigate the association between the stage of endometriosis and type and severity of pain, and to evaluate the efficacy of laparoscopic surgery in pain relief.