Fetal brain disruption sequence.
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.
Moore
C A
CA
Department of Medical Genetics, Indiana University School of Medicine, Indianapolis 46202.
Weaver
D D
DD
Bull
M J
MJ
D000015:Abnormalities, Multiple; D001921:Brain / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008831:Microcephaly / Q000150:complications*; D012535:Scalp / Q000002:abnormalities; D012886:Skull / Q000002:abnormalities*