PMC8018576_01
Representation of the patient phenotype. (a,b) The patient showed distal tremors, hypertonia, trunk hyperextension, spasticity, microcephaly, craniofacial disproportion, and a decreased vertical skull size. (c) Multiple dimples and arthrogryposis. (d) Feet contractures and prominent calcaneus. (e) Clenched fists, hand contractures, and camptodactyly. (f) Strabismus. (g) Excess skin over the entire scalp and forehead and occipital and nuchal skin folds, generating the appearance of a short neck. (h) Sloping of the forehead and prominence of supraorbital ridges, which creates an appearance of proptosis and oversized facial features, epicanthal folds, and retrognathia. Bilateral depressions were present on the forehead.
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F1
An examination of the extremities revealed hand contractures, camptodactyly, feet contractures, prominent calcanei, multiple dimples, and arthrogryposis (Figure 1).
Brain MRI. Sagittal T1-weighted (a) and sagittal constructive interference in steady state (CISS) (b) sequences showing microcephaly with a giant posterior fossa cyst, a small and displacement of the brain stem, and tightening of the posterior fossa. Coronal T2-weighted images (c) showing ventricular dilatation, cortical and white matter narrowing, and posterior fossa cyst. Axial T1-weighted images (d) showing a posterior fossa cyst. Axial T1-weighted multiplanar reconstruction (e) showing a narrow posterior fossa, cerebellar vermis with hypoplasia, and superior and lateral deviation of the cerebellum. Axial FLAIR (f) and axial T2-weighted sequences (g) showing hydrocephalus and anomalous cerebral cortex with lissencephaly and left frontal open-lip schizencephaly. Axial susceptibility-weighted image (h), with the absence of intracranial calcifications. Preliminary data of this study were previously presented in the IBRO meeting 2019.
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F2
A brain magnetic resonance imaging (MRI) showed microcephaly, with a giant posterior fossa cyst, ventricular dilatation, hypoplasia of the cerebral vermis, and an anomalous cerebral cortex with lissencephaly (Figure 2).