[Development of neural tube defects and genetic counseling].
The analysis of thirty-seven cases of neural tube defects (NTD) resulted in the following conclusions: a) At least eleven cases had the Arnold-Chiari malformation, an autosomal recessive disorder which often remains unrecognized; b) Trisomy 18 and amniotic disease associated with NTD were diagnosed in two newborns; c) In eight cases there was one or more older children with NTD; d) In two families the parents were related. A review of the literature and the exposed data indicate a heterogeneous etiology and an important role of genetic factors in the genesis of NTD.
D002675:Child, Preschool; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D007231:Infant, Newborn; D009436:Neural Tube Defects / Q000235:genetics* / Q000517:prevention & control; D010375:Pedigree; D011247:Pregnancy
Razvojne nepravilnosti zivcane cijevi i genetsko savjetovanje.