The level of epilepsy awareness in the Saudi population needs improvement.

Purpose: Dysmorphology syndromes are among the most common referrals to clinical genetics specialists. Inability to match the dysmorphology pattern to a known syndrome can pose a major diagnostic challenge. With an aim to accelerate the establishment of new syndromes and their genetic etiology, we describe our experience with multiplex consanguineous families that appeared to represent novel autosomal recessive dysmorphology syndromes at the time of evaluation. Methods:Combined autozygome/exome analysis of multiplex consanguineous families with apparently novel dysmorphology syndromes.Results: Consistent with the apparent novelty of the phenotypes, our analysis revealed a strong candidate variant in genes that were novel at the time of the analysis in the majority of cases, and 10 of these genes are published here for the first time as novel candidates (CDK9, NEK9, ZNF668, TTC28, MBL2, CADPS, CACNA1H, HYAL2, CTU2, and C3ORF17). A significant minority of the phenotypes (6/31, 19%), however, were caused by genes known to cause Mendelian phenotypes, thus expanding the phenotypic spectrum of the diseases linked to these genes. The conspicuous inheritance pattern and the highly specific phenotypes appear to have contributed to the high yield (90%) of plausible molecular diagnoses in our study cohort. Conclusion:Reporting detailed clinical and genomic analysis of a large series of apparently novel dysmorphology syndromes will likely lead to a trend to accelerate the establishment of novel syndromes and their underlying genes through open exchange of data for the benefit of patients, their families, health-care providers, and the research community.

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BACKGROUND AND OBJECTIVESData on the epidemiology of traumatic head injuries (THI) is essential for any organized prevention program. Such data are few in the developing world. Our primary goal was to study the causes, descriptive features, and outcomes of THI in adults in Saudi Arabia.DESIGN AND SETTINGSThe present study is a retrospective review.METHODSThis retrospective review included all consecutive cases of adults with THI (>18 years) who were admitted to a major trauma centre in Riyadh, Saudi Arabia, from May 2001 to July 2010. Patients were identified through a trauma database, which includes cases that required hospital admission or died in the emergency department.RESULTSA total of 1870 patients met the inclusion criteria with a mean age of 32.6 years and a male predominance (91.2%). Most injuries were secondary to motor vehicle collisions (MVC; 69.4%). Pedestrian injuries were second (16.8%) and had 40% risk of mortality (odds ratio 0.62, 95% CI 0.48–0.8). Most patients (56.7%) had a severe THI (Glasgow coma score, GCS < 8). The overall mortality rate was 30%. Mortality was significantly associated with older age (P=.0001), lower GCS (P=.0001), and a higher injury severity score (ISS; P=.0001).CONCLUSIONThe most common causes of hospital admission following injury were MVC and pedestrian injuries. Both were also the most common causes for injury-related deaths. Safety on the roads should be the primary target for any organized injury prevention programs to be successful.

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