Table 2.

Some examples of human conditions with defective cortical structure

Condition	Cause	Cortical defect	Trabecular defect	References
Caffey disease	COL1A1	Hyperostosis. Local inflammation with subperiosteal new lamellar bone formation	Unknown	[15]
Jansen’s metaphyseal chondrodysplasia	PTH1R	Cortical bone erosion	Diffuse demineralization, rickets-like metaphyseal changes	[140]
Hajdu–Cheney syndrome	NOTCH2	Thin cortical bone	Osteoporosis, focal bone lysis of distal phalanges	[41]
Camurati–Engelman disease	TGFB1	Bilateral and symmetrical hyperostosis at the diaphysis	Unknown	[93]
Kenny–Caffey syndrome	TBCE (type 1), FAM111A (type 2)	Cortical thickness	Unknown	[96, 98]
Pyle’s disease	SFRP4	Wide and thin cortices	Wide metaphysis with increased trabecular bone	[102]
Gorham Stout disease	Unknown	Osteolysis	Osteolysis	[134]

Conditions are listed in the same order as in the text