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Lint: kyphomelic-dysplasias

Semicolons
suggestion

"cartilage-hair hypoplasia (CHH; metaphyseal dysplasia, McKusick type)"

Line 4:45 · Use semicolons judiciously.
There Is
suggestion

"There are multiple skeletal anomalies associated with this class of dysplasias, and common manifestations are:"

Line 10:4 · Don't start a sentence with 'There are'.