A novel RUNX2 missense mutation predicted to disrupt DNA binding causes cleidocranial dysplasia in a large Chinese family with hyperplastic nails

Table 1 Clinical Manifestation of Family with CCD

Patient	Sex	Age	Height (cm)	Cranial	Shoulders	Clavicle	Nails	Other
I1	F	76	very short	frontal bossing	sloping, bilateral		elevated nail bed
II2	F	52	140.0	increased suture space	severe sloping, bilateral		elevated nail bed
II3	M	49	150.5	depressed anterior fontanels	severe sloping, bilateral	absence of lateral 1/3, bilateral	elevated nail bed
II6	M	40	152.0	frontal bossing	mild sloping, bilateral	absence of lateral 1/3, right	elevated nail bed
II7	F	34	141.5	frontal bossing	mild sloping, bilateral	absence of lateral 1/3, right	elevated nail bed	normal ALP
III2	M	33	155.0	increased suture space	severe sloping, bilateral	absence of lateral 1/3, bilateral	elevated nail bed
III4	F	26	134.5	severe depressed anterior fontanels	Sloping, bilateral		elevated nail bed	normal ALP
III12	F	12	120.5	frontal bossing	Sloping, bilateral	normal	elevated nail bed
III14	M	3	80.0	frontal bossing	increased mobility, Bilateral	normal	elevated nail bed
IV2	M	4	90.0	macrocephaly	increased mobility, Bilateral	normal	elevated nail bed
IV3	M	2	83.5	macrocephaly	increased mobility, Bilateral	absence of lateral 1/3, right	elevated nail bed

ISSN: 1471-2350