Table 1 Clinical features of the patients with de novo IHH mutations
From: A novel variant of IHH in a Chinese family with brachydactyly type 1
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, |