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Lint: bathrocephaly

Commas
suggestion

"Rarely, there is an association with Hajdu-Cheney syndrome, which is characterised by hirsutism, joint laxity, acro-osteolysis, vertebral anomalies, bathrocephaly, and normal intelligence 4."

Line 4:10 · More than 5 commas in a single sentence might make it more difficult to read.
There Is
suggestion

"Bathrocephalic occiputs is a normal variation in skull shape, in which there is an outward convex bulge of mid-portion of the occipital bone 5. Bathrocephaly extends from the lambdoid to the mendosal suture. There is often a significant bulge of the interparietal portion of the occipital bone 3,6."

Line 8:237 · Don't start a sentence with 'There is'.

"There is no evidence that intervention or surgical management of the disorder is necessary 1."

Line 18:4 · Don't start a sentence with 'There is'.