Table 2 The clinical features of previously reported patients with TRIP11 variants and our two patients with MIA3 variants

Sex

6 males / 10 females

2 males

Dentenogenesis imperfecta

14/16 (2 patients died early)

2/2

Spondylometaphyseal dysplasia

16/16

2/2

Short stature

15/16

2/2

Relative macrocephaly

14/16

2/2

Small chest

13/16

2/2

Pectus carinatum

6/16

1/2

Scoliosis

8/16

1/2

Mesomelic shortening

14/16

0/2

Brachydactyly

15/16

2/2

Joint hyperextensibility

9/16

2/2

Extraskeletal manifestations

Pulmonary hypoplasia (4/16)

Polycystic Kidneys (1/16)

Nephronophthisis (1/16)

Hydrocephalus (1/16)

Congenital heart defects (1/2)

Squint (1/2)