A genotype-phenotype study of hereditary multiple exostoses in forty-six Chinese patients

BMC Medical Genetics

Table 1 Scoring system used in this study

Parameters			Score
Age of onset (years)
		>3^a	1
		<=3	2
Height stature
		> = P50	0
		<P50	1
		<P25	2
		<P10	3
		<P3	4
Number of involved anatomical sites^b
		<15	1
		> = 16	2
Forearm deformity
	I	No exostosis involvement of the distal forearm	0
	II	With exostosis involvement of the distal radius or ulna without shortening of either bone or proportionate shortening	1
	III	With exostosis involvement of the distal ulna or radius results in relative shortening of the ulna and a bowed radius or relative shortening of the radius, include Masada type I and type III	2
	IV	With exostoses in the distal ulna, a relatively shorter ulna and dislocated radial head described as Masada type IIa and IIb	3
Alignment of low extremity
		Normal	0
		Valgus/Varus	1

^aHME has penetrance of 50% by the age of three and a half [8]; in this study less than three years was defined as 1 point
^bThe mean number of involved anatomical sites in this study was 15

ISSN: 1471-2350