Novel loss of function variants in FRAS1 AND FREM2 underlie renal agenesis in consanguineous families.

Introduction: Congenital anomalies of the kidney and urinary tract (CAKUT) are a group of abnormalities that affect structure of the kidneys or other structures of the urinary tract. The majority of CAKUT are asymptomatic and are diagnosed prenatally by ultrasound scanning or found incidentally in postnatal life. CAKUT varies in severity and may lead to life-threatening kidney failure and end-stage kidney disease.

KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis.

Whole-exome and targeted sequencing of 13 individuals from 10 unrelated families with overlapping clinical manifestations identified loss-of-function and missense variants in KIAA1109 allowing delineation of an autosomal-recessive multi-system syndrome, which we suggest to name Alkuraya-Kučinskas syndrome (MIM 617822). Shared phenotypic features representing the cardinal characteristics of this syndrome combine brain atrophy with clubfoot and arthrogryposis. Affected individuals present with cerebral parenchymal underdevelopment, ranging from major cerebral parenchymal thinning with lissencephalic aspect to moderate parenchymal rarefaction, severe to mild ventriculomegaly, cerebellar hypoplasia with brainstem dysgenesis, and cardiac and ophthalmologic anomalies, such as microphthalmia and cataract.

Effectiveness of Misoprostol for Induction of First-Trimester Miscarriages: Experience at a single tertiary care centre in Oman.

Objectives: Non-invasive methods of inducing a miscarriage are now considered an effective alternative to surgical evacuation (dilatation and curettage). This study aimed to evaluate the effectiveness of misoprostol in the termination of first-trimester miscarriages.

Methods: This prospective study was conducted between October 2009 and September 2010 and assessed all patients admitted to the Royal Hospital in Muscat, Oman, for the termination of first-trimester miscarriages during the study period.

Pregnancy in the Rudimentary Uterine Horn: Case report of an unusual presentation.

A unicornuate uterus with a rudimentary horn is a uterine anomaly resulting from the incomplete development of one of the Müllerian ducts and an incomplete fusion with the contralateral side. Pregnancy in a rudimentary horn of the uterus is a rare clinical condition with a reported incidence of 1 in 100,000 to 140,000 pregnancies. Usually the diagnosis is missed and may present as an emergency with haemoperitoneum.