reduced during the first six months by non-closure of the defect. Presumably non-closure allows cerebrospinal fluid to escape from the open neural tube, postponing the development of hydrocephalus until epithelium has formed. As deferred shunt operations are associated with a better prognosis,4 nonclosure may in fact be advantageous, delaying the onset of ventriculitis until the child is immuno...

We identified two novel mouse mutants with abnormal head-shaking behavior and neural tube defects during the course of independent ENU mutagenesis experiments. The heterozygous and homozygous mutants exhibit defects in the orientation of sensory hair cells in the organ of Corti, indicating a defect in planar cell polarity. The homozygous mutants exhibit severe neural tube defects as a result of...

Context. Fetal sincipital encephalocele is one of the most serious congenital neural tube defects with a high risk of mortality and neonatal morbidity. Prenatal diagnosis of this malformation is important in fetal medicine. Case Report. We report a case of prenatal diagnosis of sincipital encephalocele using ultrasound and MRI imaging. The diagnosis was done at 25 weeks of gestation by identify...

Neural tube defect with its global involvement of nervous system has lot of implications. There is cotroversy in terms of timing of repair, simultaneous or metachronous ventriculoperitoneal shunt and criteria for shunt surgery in neonatal age. We are reporting our approach and results of management of this disease in neonatal period.

Neural tube defects result from failure of neural tube fusion during early embryogenesis, the fourth week after conception. The spectrum of severity is not uniform across the various forms of this congenital anomaly as certain presentations are not compatible with extrauterine life (anencephaly) while, on the other hand, other defects may remain undiagnosed as they are entirely asymptomatic (oc...

OBJECTIVE The splotch (Sp2h) mutation disrupts the Pax3 gene and is lethal in homozygotes. The aim of the present study was to investigate the cause of lethality. METHODS AND RESULTS Using the splotch (Sp2H) mouse mutant, we demonstrated that approximately 60% of Sp2H homozygotes die in utero at 13.5-14.5 days of gestation. All these embryos have cardiac malformations involving partial or com...

Birth defects (congenital anomalies) are the leading cause of death in babies under 1 year of age. Neural tube defects (NTD), with a birth incidence of approximately 1/1000 in American Caucasians, are the second most common type of birth defect after congenital heart defects. The most common presentations of NTD are spina bifida and anencephaly. The etiologies of NTDs are complex, with both gen...

Iniencephaly is a rare kind of neural tube defect that is classified into two types of iniencephaly apertus and iniencephaly clausus. This anomaly could be diagnosed prenatally by obstetric ultrasonography and terminated by therapeutic abortion; however, it could be undiagnosed until birth similar to our case due to the abnormal position of the fetus or lack of experience of the sonographer. Du...

OBJECTIVE To illustrate the clinical and radiological findings of split cord malformation (SCM) in patients with spinal open neural tube defect (SONTD), and report the outcome of their treatment. METHODS A retrospective study of the clinical and radiological findings of 11 patients diagnosed with SCM, identified among 83 patients with SONTD at King Khalid University Hospital, in Riyadh, Saudi...