Subsequently, feeding difficulties with poor growth become more evident as the delayed milestones. Hypertonia, joint stiffness, and seizures develop rapidly, and most of the patients die in the first decade of life. [ncbi.nlm.nih.gov]

The presenting clinical features consist of progressive facial coarsening, gingival hypertrophy, severe scoliosis, sparse hair, cutis laxa, and joint hyperlaxity. [ 46 ] PMSE [ 42 ] is linked to homozygous 7-kilobase deletion in LYK5, which encodes STE20 [ncbi.nlm.nih.gov]

Brain MRI shows confluent subcortical white matter lesions that spread centrifugally with atrophy of the cerebellar vermis and involvement of dentate nuclei. [ 16 ] 4.2. [ncbi.nlm.nih.gov]

CHARGE consortium: See ref. 40 for the general cognitive function GWAS, and ref. 29 for the white matter lesion GWAS. [dx.doi.org]

We report the case of a male infant with Chiari malformation type I who presented with congenital hydrocephalus and occipital encephalocele that progressed to hydrocephalic macrocephaly with frontal skull defect, despite numerous cerebrospinal fluid diversion [ncbi.nlm.nih.gov]