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Table 1 Published cases of prenatally diagnosed microhydranencephaly or fetal brain disruption sequence

From: Prenatal diagnosis of fetal microhydranencephaly: a case report and literature review

First author (year) GW at delivery Delivery Method Sex Fetal birth weight (g) OFC at birth (SD) Overlapping suture Prominent occipital bone Sloping forehead Scalp rugae Normal scalp hair Cerebral abnormality Hydrocephalus GW at prenatal diagnosis Fetal findings at prenatal diagnosis Imaging modalities used for prenatal diagnosis Chromosomal abnormality Prognosis
Russell (1984) [1] 37 NS F 2400 -6.4 + + + + + Severe atrophy + 36 Microcephalus US Not tested Death at 4 months
Term NS F 1786 -7.5 + + + + + Cerebrum defect + NA Microcephalus US Not tested Alive at 4 months
Term NS M 1960 -6.6 + + NS + + Atrophy and calcification + 34 Microcephalus US Normal karyotype Death at 23 days
Bönnemann (1990) [7] 35 VD F 1670 -6.0 + + - + + Atrophy + NA Microcephalus US NS NS
Alexander (1995) [2] Term VD F 4200 -0.6 NS NS - + + Severe atrophy + 37 Microcephalus US Normal karyotype Alive at 2.5 years
Gabis (1997) [19] 38 CS M NS -0.9 + NS + NS + Porencephaly - 30 Microcephalus, intracranial hemorrhage, porencephalic cyst US NS NS
DeJonge (1997) [20] 34 NS F 2014 NS + + + + + Cerebrum defect NS 28 Microcephalus US Normal karyotype Death at 1 day
Villó (2001) [23] 38 VD F 2055 -5.0 + + NS + + Severe atrophy + 25 Microcephalus US Normal karyotype Alive at 3 years
Schram (2004) [3] 38 NS M 2880 -2.8 + + + + + Severe hypoplasia + 28 Occipital flattening US Normal karyotype Death at 2 years
36 VD M 2590 -3.4 + NS - + + Aplasia and atrophy + 36 Microcephalus, small brain US Normal karyotype Death at 1 month
33 VD F 2050 -1.0 + NS - + + Atrophy and calcification + 26 Microcephalus, small brain, hypoplastic cerebellum, normal brain stem, hydrocephalus,excess amount of cerebrospinal fluid US, MRI Normal karyotype Death at 1 day
Behunova (2010) [24] 40 NS M 3770 -2.5 NS NS + + + Severe atrophy + 28–31 Microcephalus US Normal karyotype Alive at 5.5 years
Abdel-Salam (2015) [6] Term CS M 3000 -3.0 + + NS NS NS Severe hypoplasia + 28 Microcephalus, hypoplastic cerebrum, hypoplastic cerebellum, hypoplastic brain stem, hydrocephalus US, MRI NS Death at several days
28 VD F NS NS + + + NS NS Severe hypoplasia + 24 Microcephalus, hypoplastic cerebrum, hypoplastic cerebellum, hypoplastic brain stem,
hydrocephalus, prominent occipital bone
US, MRI Normal karyotype Termination
Omoto (present case) 37 VD M 2342 -5.4 - + + - Partial defect Cerebrum defect + 23 Microcephalus, cerebrum defect,
cerebellum hypoplasia, normal brain stem,
hydrocephalus, excess amount of cerebrospinal fluid,
prominent occipital bone, sloping forehead
US, MRI, CT 46, XY, inv(9)(p12q13) Alive at 18 months
  1. GW Gestational week, SD Standard deviation, OFC Occipitofrontal circumference, NS Not stated, VD Vaginal delivery, CS Cesarean section, male, Female, US Ultrasonography, MRI Magnetic resonance imaging, CT Computed tomography