Prenatal diagnosis of a neural tube defect: Meckel syndrome.

摘要: A severe neural tube defect diagnosed in a 191/2-week-old "at risk" fetus on the evidence of markedly elevated alpha-fetoprotein level amniotic fluid, turned out to be an occipital myelocoele. However, also had polycystic kidneys and postaxial hexadactyly all extremities. The karyotype was normal. These are features rare Meckel syndrome, caused by pleiotropic, autosomal, recessive gene, one possibly two other sibs were affected.