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 |