title: Severe fetal brain dysgenesis with focal calcification.
abstract: OBJECTIVE
  To describe a fetal syndrome of abnormal brain development with intracranial calcification, identified in three successive pregnancies.
  
  
  METHODS
  Clinical, imaging, and pathological descriptions, and pedigree assessment.
  
  
  RESULTS
  All three affected pregnancies were terminated, following imaging diagnosis of brain abnormality. The most complete fetal study, from the third of these pregnancies, showed widespread foci of brain calcification not associated with inflammation, with extensive necrosis and calcification of periventricular white matter, but with sparing of thalamus and basal ganglia. The corticospinal tracts were severely hypoplastic.
  
  
  CONCLUSIONS
  This condition appears to be a 'new' genetically determined, probably autosomal recessive disorder of severe early brain dysgenesis with focal calcification, resembling, but distinct from, certain other clinical genetic entities of which brain calcification is a part.
authors.affiliation: Genetic Health Services Victoria, Royal Children's Hospital, Melbourne, Australia. mac.gardner@ghsv.org.au
authors.forename: R J McKinlay
authors.initials: RJ
authors.lastname: Gardner
authors.forename: C W
authors.initials: CW
authors.lastname: Chow
authors.forename: Ian
authors.initials: I
authors.lastname: Simpson
authors.forename: A Michelle
authors.initials: AM
authors.lastname: Fink
authors.forename: Simon E
authors.initials: SE
authors.lastname: Meagher
authors.forename: Susan M
authors.initials: SM
authors.lastname: White
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000196:embryology / Q000473:pathology; D000328:Adult; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008831:Microcephaly / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000196:embryology / Q000473:pathology; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011262:Pregnancy Trimester, Second; D012720:Severity of Illness Index; D016216:Ultrasonography, Prenatal