After imaging, the infant was diagnosed with hypoplasia of the left kidney, which explained his reduced renal function.

The study identified several dental hypoplasias in the archaeological remains, suggesting periods of childhood malnutrition.

Recent studies have improved our understanding of pontocerebellar hypoplasias and their genetic diversity.

After genetic testing, the team diagnosed the child with pontocerebellar hypoplasia and began planning supportive therapies.

Children diagnosed with cartilage-hair hypoplasia often have very thin, light hair and short-limbed dwarfism caused by skeletal dysplasia, requiring coordinated medical care.