Table 1.

Clinical features of the patients with de novo IHH mutations

Patient	Gender	Age at last Examination (years)	Height	Common features	Additional features
III-2	Male	50y	168 cm (normal)	Shortened fingers and toes	–
III-4	Male	49y	157 cm(<−2.4SD)	Shortened fingers and toes	Radial deviation of the third finger,radial deviation of the second and third finger
III-5	Male	47y	169 cm (normal)	Shortened fingers and toes	Flexion contracture of the 4nd finger
IV-2	Female	30y	154 cm(<−2.4SD)	Shortened fingers and toes, absence of middle phalanges of the fifth finger, absence of middle phalanges of the third to fifth toes, fusion of middle and terminal phalanges of third to fifth toe,	Radial deviation of the second fingerbilateral shortening of metacarpals bone 3–5, bilateral shortening of metatarsals bone 3–4
IV-5	Male	19y	155 cm(<−2.5SD)	Shortened fingers and toes,absence of middle phalanges of the fourth toes.	Radial deviation of the second finger,