Diastematomyelia: A Case with Familial Aggregation of Neural Tube Defects

Do familial neural tube defects breed true?

The tendency for sibs affected by non-syndromal neural tube defect (NTD) to have the same type of lesion was assessed retrospectively in a series of 66 affected sibships from the west of Scotland. Different schemes were used to classify the lesions: in the simplest classification into either anencephaly (including anencephaly-spina bifida) or spina bifida there was a tendency for spina bifida t...

Is there a familial link between Down's syndrome and neural tube defects? Population and familial survey.

OBJECTIVE To verify whether Down's syndrome and neural tube defects arise more often in the same family than expected by chance. DESIGN Population and familial survey. SETTING Network of maternity hospitals in the Latin American collaborative study of congenital malformations (ECLAMC) in Argentina, Bolivia, Brazil, Chile, Colombia, Ecuador, Paraguay, Peru, Uruguay, and Venezuela between 198...

Neural tube defects

lower limbs and other major organ malformations.4 Complex dysraphic states due to aberrant integration of the notochord include split cord malformation (SCM) or diastematomyelia: a congenital spinal anomaly in which there is longitudinal splitting of the spinal cord.5,6 Causes of NTDs are multifactorial and defects in several different genes can underlie the genetic basis of this disease.1 Howe...

Neural-tube defects.

Neural tube defects.

The purpose of this article is to describe the etiology of neural tube defects (NTDs) and the role of folic acid in their prevention. NTDs are all too common and devastating outcomes of many pregnancies. The brain and spinal cord malformations that develop during gestation in the NTD-affected pregnancies are expressed through various anomalies. Estimates by the Centers for Disease Control and P...