Table 1.

Clinical, radiological, and molecular findings of our patients

	Patient IX-2	Patient VII-3	Patient VII-6	Patient III-6
OI type	VI	VI	VI	VI
Birth weight/birth length	–	–	–	–
Confirmed prenatal fractures	no	no	no	no
Age at first fracture, months	12	11	12	5
Color of sclerae	white	slightly blue	white	white
Dentinogenesis imperfecta	no	no	no	no
Retarded gross motor functions	yes	no	no	yes
Normal intelligence	yes	yes	yes	yes
Hearing impairment	yes	no	no	no
Hypermobility of joints	no	no	no	no
Age at start of treatment with pamidronate, years	32	–	–	3
Ability to walk (with crutches)	No	yes	yes	no
Weight, kg/BMI of last visit	43/43	34.6/24	47.4/35.2	20/20.8
Length, cm/SD of last visit	100/>–2	120/>–2	116/>–2	98/>–2
Wormian bones	yes	no	no	no
Vertebral fractures	yes	no	no	no
Old fractures of extremities	yes	yes	yes	yes
Tapering of ribs	yes	no	no	no
Popcorn calcification	yes	no	no	no
Rhizomelic shortening of limbs	severe	moderate (left femur)	no	moderate (upper limbs)
Bowing of upper extremities	severe	moderate	mild	severe
Bowing and tapering of femur, tibiae, and fibulae	severe	mild tapering of tibiae and fibulae	moderate	severe

All patients showed the same 19-bp deletion in exon 8 of SERPINF1 (c.1152_1170del, p.384_390del) and were of Portuguese/Dutch/native-born origin.