PT  - JOURNAL ARTICLE
AU  - M J Seller
TI  - Prenatal diagnosis of a neural tube defect: Meckel syndrome.
AID  - 10.1136/jmg.12.1.109
DP  - 1975 Mar 01
TA  - Journal of Medical Genetics
PG  - 109--110
VI  - 12
IP  - 1
4099  - http://jmg.bmj.com/content/12/1/109.short
4100  - http://jmg.bmj.com/content/12/1/109.full
SO  - J Med Genet1975 Mar 01; 12
AB  - A severe neural tube defect diagnosed in a 191/2-week-old "at risk" fetus on the evidence of a markedly elevated alpha-fetoprotein level in the amniotic fluid, turned out to be an occipital myelocoele. However, the fetus also had polycystic kidneys and postaxial hexadactyly on all extremities. The karyotype was normal. These are the features of the rare Meckel syndrome, caused by a pleiotropic, autosomal, recessive gene, and one and possibly two other sibs were also affected.