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. The phenotype is highly consistent, and comprises neurogenic arthrogryposis, microcephaly, brain malformation (absent corpus callosum), optic atrophy, limb fractures, profound global developmental delay, and early lethality. Whole-exome sequencing revealed a different homozygous truncating variant in SCYL2 in each of the two families. SCYL2 is a component of clathrin-coated vesicles, and deficiency of its mouse ortholog results in a severe neurological phenotype that largely recapitulates the phenotype observed in our patients. Our results suggest that severe neurogenic arthrogryposis with brain malformation is the human phenotypic consequence of SCYL2 loss of function mutations.

Increased nuchal translucency and congenital heart disease.

Sonographic assessment of fetal nuchal translucency (NT) thickness is the cornerstone of screening for chromosomal abnormality at 11-13(+6) weeks gestation. This marker was first recognized in pregnancies being karyotyped for advanced maternal age, but its underlying pathophysiology remains to be fully determined. Although increased NT is clearly associated with changes in both lymphatic and cardiac development, neither is an obvious causative agent. The association with cardiac defects has now being subjected to a significant amount of research, with a large body of evidence showing that this marker is also a screening tool for major cardiac defects - although it performs more modestly than for chromosomal abnormality. The field continues to change rapidly. Recent evidence that uses a combination of increased NT, tricuspid regurgitation and abnormal flow in the 'a' wave of the ductus venosus can provide an effective screening strategy to predict many major cardiac defects at this early stage of pregnancy.

Utero-vaginal packing. Seven years review in the management of post partum hemorrhage due to placenta previa/accreta at a maternity hospital in Central Saudi Arabia.

OBJECTIVE: To study the effectiveness of utero-vaginal packing in the management of primary postpartum hemorrhage due to placenta previa/accreta. METHODS: We conducted this study in the Maternity Hospital, Riyadh Medical Complex, Riyadh, Saudi Arabia. This is a retrospective study covering 7 years from January 2001 to December 2007. Utero-vaginal packing was carried out by placing gauze soaked in normal saline solution approximately 2 meters long and 10 cm in width into the lower uterine segment through the cesarean incision, with its end passed through the cervix into the vagina. Routine closure of the cesarean incision was performed, and then another similar pack was inserted into the vaginal fornices to counteract the pressure effect of the uterine pack and compress the pelvic vessels. RESULTS: In 83 patients with post partum hemorrhage caused by placenta previa/accreta, 48 of them underwent utero-vaginal packing alone as a conservative measure in the management of bleeding. Three of them needed second surgical intervention, however, there was no maternal death among the series. CONCLUSION: Utero-vaginal packing is of benefit in achieving hemostasis in cases of post partum hemorrhage due to low lying placenta previa/accreta and conserving the uterus particularly in women with low parity.