Ependymoblastomatous exencephaly: a unique fetal malformation.

Exencephaly/anencephaly is a rare neural tube defect occurring early in embryogenesis. We report a 14-week-old fetus with exencephaly in whom central nervous system tissue was developed and preserved. There were 2 symmetrical structures grossly resembling cerebral hemispheres, which on histologic and ultrastructural study, consisted of a combination of ependymoblastomatous rosettes and canals and primitive neural tissue.

Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome.

Meckel-Gruber syndrome (MKS) is an autosomal recessive, lethal multisystemic disorder characterized by meningooccipital encephalocele, cystic kidney dysplasia, hepatobiliary ductal plate malformation, and postaxial polydactyly. Recently, genes for MKS1 and MKS3 were identified, putting MKS on the list of ciliary disorders (ciliopathies). By positional cloning in a distantly related multiplex family, we mapped a novel locus for MKS to a 3-Mb interval on 12q21.

Interstitial deletion del(10)(q25.2q25.3 approximately 26.11)--case report and review of the literature.

Objectives: To present the clinical, cytogenetic, and molecular cytogenetic findings of prenatally diagnosed interstitial deletion 10q25.2-q26.1.

Double-chamber right ventricle associated with severe fetal cardiac failure.

Fetal cardiac defects leading to intrauterine cardiac failure and subsequent fetal hydrops are rare. We report an unusual case of a double-chamber right ventricle leading to progressive fetal cardiac insufficiency and hydrops. The patient was first managed conservatively.