Patient Story

  • Orthopedics: Alex

    Orthopedics: Alex

    Eight-year-old Alex is in constant motion. The difference in the length of his legs and wearing a built-up sneaker doesn’t slow him down one bit. His ...

Problems Elsewhere in the Body

Eye

As with other disorders that affect type II collagen, such as SEDc, children with Kniest dysplasia develop serious eye problems, including severe myopia (near-sightedness), retinal detachment, and cataracts. This makes regular ophthalmologic follow-up a necessity. Eyes may also protrude.

Ear

Progressive conductive hearing loss is common due to repeated middle ear infections. This can be made worse by associated sensori-neural deafness to high-pitched sounds.

Respiratory

Tracheomalacia (softening and collapse of the windpipe leading to breathing difficulties) and respiratory distress are common in neonates. Upper respiratory tract infections occur frequently leading to conductive hearing loss.

Mouth

Cleft palate occurs in 50% of patients and oftentimes leads to middle ear infections and delayed onset of speech. It should be repaired once the infant is stable enough to withstand surgical procedures.

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