Developmental outcome of isolated fetal microcephaly

Autosomal dominant isolated ('uncomplicated') microcephaly.

A large family (13 affected members in three generations) is reported in which isolated microcephaly occurred without any other dysmorphic or neurological abnormalities. The family pedigree confirms the autosomal dominant mode of inheritance with incomplete penetrance, including one example of male to male transmission and the occurrence of a non-manifesting heterozygote resulting in a 'skipped...

Isolated chromosome 8p23.2-pter deletion: Novel evidence for developmental delay, intellectual disability, microcephaly and neurobehavioral disorders

The current study presents a patient carrying a de novo ~6 Mb deletion of the isolated chromosome 8p23.2‑pter that was identified with a single‑nucleotide polymorphism array. The patient was characterized by developmental delay (DD)/intellectual disability (ID), microcephaly, autism spectrum disorder, attention‑deficit/hyperactivity disorders and mildly dysmorphic features. The location, size a...

Mri of Fetal Developmental Anomalies

Isolated mild fetal ventriculomegaly.

Ventriculomegaly is an excess of fluid in the lateral ventricles within the developing cerebrum. It is usually diagnosed at a routine fetal anomaly scan at 18-22 weeks gestation. Management of the condition and counselling of parents are difficult, as the cause, absolute risk, and degree of resulting handicap cannot be determined with confidence.

Fetal growth and developmental programming.

The environment in utero and in early neonatal life may induce a permanent response in the fetus and the newborn, leading to enhanced susceptibility to later diseases. This review concentrates on the role and mechanisms of events during the antenatal and immediate postnatal period resulting in later life diseases, concentrating on abnormal growth patterns of the fetus. Fetal overgrowth is relat...