Cranial vault defects: the description of three cases that illustrate a spectrum of anomalies.
Three cases of cranial vault defects in fetuses are described. All 3 cases underwent postmortem examination, and in 2 of them postmortem magnetic resonance imaging was also performed. The phenotypical differences between the cases illustrate a spectrum of cranial vault defects, associated anomalies, and pathogenic mechanisms involved in the etiology of this rare malformation. All 3 cases were male, and the cranial vault defects corresponded to exencephaly with acrania/acalvaria caused by amniotic band syndrome, acalvaria, and acrania presenting in a chorangiopagus parasiticus twin.
Evans
Clair
C
Sheffield Children's Hospital, Western Bank Sheffield, UK.
Marton
Tamas
T
Rutter
Susan
S
Anumba
Dilly O
DO
Whitby
Elspeth H
EH
Cohen
Marta C
MC
D000015:Abnormalities, Multiple / Q000473:pathology*; D001344:Autopsy / Q000379:methods; D019465:Craniofacial Abnormalities / Q000473:pathology*; D017809:Fatal Outcome; D005333:Fetus / Q000196:embryology / Q000473:pathology*; D005865:Gestational Age; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D012886:Skull / Q000002:abnormalities*