Recessive mutations in SCYL2 cause a novel syndromic form of arthrogryposis in humans.

Arthrogryposis multiplex congenita (AMC) is an important birth defect with a significant genetic contribution. Many syndromic forms of AMC have been described, but remain unsolved at the molecular level. In this report, we describe a novel syndromic form of AMC in two multiplex consanguineous families from Saudi Arabia and Oman.

Report of a case of Raine syndrome and literature review.

We report on a case of Raine syndrome with a mutation in FAM20C and typical phenotypic features consisting of midface hypoplasia, hypoplastic nose, choanal atresia, wide fontanelle, exophthalmos, generalized osteosclerosis and intracranial calcification. New features in our patient are cerebellar hypoplasia and pachygyria. We review the literature and conclude that the triad of hypoplastic nose, exophthalmos and generalized osteosclerosis and/or intracranial calcification is consistent in all molecularly confirmed cases.

Genetic, chromosomal, and syndromic causes of neural tube defects.

Objective: To ascertain the incidence, and describe the various forms of neural tube defects (NTDs) due to genetic, chromosomal, and syndromic causes.

Methods: We carried out a retrospective analysis of data retrieved from the medical records of newborn infants admitted to the Neonatal Intensive Care Unit with NTDs and their mothers spanning 14 years (1996-2009) at the Security Forces Hospital, Riyadh, Saudi Arabia. The cases were ascertained by a perinatologist, neonatologist, geneticist, radiologist, and neurologist.

Sirenomelia and severe caudal regression syndrome.

Objective: To describe cases of sirenomelia and severe caudal regression syndrome (CRS), to report the prevalence of sirenomelia, and compare our findings with the literature.

Methods: Retrospective data was retrieved from the medical records of infants with the diagnosis of sirenomelia and CRS and their mothers from 1989 to 2010 (22 years) at the Security Forces Hospital, Riyadh, Saudi Arabia. A perinatologist, neonatologist, pediatric neurologist, and radiologist ascertained the diagnoses.

Infants of diabetic mothers. A cohort study.

Objective: To determine the outcome of infants born to diabetic mothers at Security Forces Hospital, Riyadh, Saudi Arabia, and compare the complications seen in these infants with infants of non-diabetic mothers.

Methods: This is a concurrent prospective cohort study of a population of newborn infants delivered at Security Forces Hospital, Riyadh, Saudi Arabia for diabetic mothers between January 2011 and November 2011.

Results: A total of 601 infants were enrolled in the study consisting of 319 infants of non-diabetic mothers, and 282 infants of diabetic mothers.

Outcomes of an isolated single umbilical artery in singleton pregnancy: a large study from the Middle East and Gulf region.

Objective: To assess the frequency and accuracy of prenatal diagnosis of a single umbilical artery (SUA) and to compare the fetal and neonatal outcome of isolated SUA to that of a normal three-vessel umbilical cord in a population from the Middle East and Gulf region.

Study Design: Data were collected from 37,500 singleton pregnancies that were scheduled for antenatal care and delivered at Security Forces Hospital in Riyadh, Saudi Arabia, between May 2004 and December 2012. Comparisons between the groups were performed using a chi-square test or a Fisher exact test for the categorical variables, and Student's t test or Wilcoxon's rank-sum test were used for continuous variables.