ABSTRACT
The fetal brain disruption sequence is a recognizable pattern of defects that includes moderate to profound microcephaly, overlapping sutures, occipital bone prominence, and scalp rugae. The condition is postulated to arise from partial brain disruption during the second or third trimester with subsequent fetal skull collapse resulting from decreased intracranial hydrostatic pressure. Proposed causes include prenatal viral or parasitic infections and vascular disruptions. We report seven infants with the fetal brain disruption sequence. Two of these patients died. A changing phenotype with time was seen in three. Recognition of this phenotype is critical because the condition has a uniformly poor prognosis for infants but the recurrence risk in future pregnancies is low.
Subject(s)
Abnormalities, Multiple , Brain/abnormalities , Microcephaly/complications , Skull/abnormalities , Female , Humans , Infant, Newborn , Male , Scalp/abnormalitiesABSTRACT
Occipitofrontal head circumference was measured on 122 twin pairs, their spouses, and their children. These data indicate that approximately 50% of normal head size variation is familial. Because of the relationship between the head size of normal children and their parents, adjustment of a child's head size value by the average parental value permits better definition of the range of normalcy. A method is presented that will allow physicians to make this adjustment, providing a more refined assessment of head size when there is a suspected abnormality.