| Autopsy |
| External findings |
Microcephaly, arthrogryposis |
| Misshapen/collapsed auricular tragi bilaterally (Fig. 2A) |
| Hyperflexed wrists, extended arms; decreased musculature |
| Shortened forearms and forelegs |
| Fingers elongated bilaterally; shortened thumbs |
| Bilateral hands without identifiable palmar creases (Fig. 2C) |
| Legs extended at knees, flexed at hips; decreased musculature |
| Bilateral foot edema (Fig. 2B) |
| Hypertrichosis of fine downy hair on extremities and back |
| Internal findings |
Heart, outlet ventricular septal defect (5 × 5 mm) |
| Pulmonary hypoplasia; the lung-to-body weight ratio was low: 0.012 |
| Well-formed kidneys; duplicate right renal artery |
| Bicornuate uterus |
| Neuropathology |
Immature brain, 175 g with microcephaly |
| Asymmetry, with smaller right cerebrum, malformation of cerebral cortical development with agyria/pachygyria of bilateral temporal and right frontoparietal lobe (Fig. 2D), and subarachnoid glioneuronal heterotopia |
| Asymmetric ventriculomegaly (Fig. 2E) |
| Dandy–Walker malformation with large posterior fossa fourth ventricular cyst, and near-complete agenesis of the cerebellar vermis (Fig. 2F) |
| Bilateral cerebellar cortical dysplasia, extensive, lateral parts of the hemispheres; focal cerebellar cortical heterotopia in the white matter |
| Dystrophic calcification, multifocal: cerebral periventricular, thalamus, and midbrain |
| Diffuse reactive astrocytosis, cerebral/cerebellar white matter |
| Placental pathology |
Placenta weight: 306 g, 16 × 16 × 3 cm |
| Membranes: Meconium-laden macrophages, minimal acute inflammation |
| Umbilical cord: single vessel vasculitis, focal acute funisitis, moderately coiled, 22 cm long |
| Villi: Accelerated maturation, increased karyorrhexis |
