Clinical presentation of the disease can already be apparent at birth with multiple fractures, which then result in long bone deformities. OI can be fatal with children not surviving the neonatal period. In early childhood OI can be detected by a radiological osteoporotic bone appearance. In more severe cases one can detect fractures alongside with these mass and quality abnormalities. Since OI is a very complex syndrome which asks for a strong focus on gene defects, it is very important to involve the patients in a complex treatment plan and offer adequate counseling strategies [16].

The clinical signs can include acute pain resulting from fractures or fissures. This experience of severe pain leads to a constant fear of further fractures, which causes patients not to leave the bed or wheel chair anymore [17]. Lack of movement and weight bearing leads to a decreased bone mass, therefore leading the patient into a permanent state of decreased bone mass.

Dental issues can occur. Teeth are mostly made up of collagen Type I. OI can present as a dentinogenesis imperfecta. Patients with dentinogenesis imperfecta often complain about recurring infections and severe cases lead to dental malformations. The teeth may be gray to brown in color and can be translucent.

About 37–78 % of patients in all age groups with OI present with decreased hearing [18]. Problems usually occur due to poor transmission in the middle ear. The onset is usually around 15 years of age. Adults may also present vertigo, balance disturbances and tinnitus is also very common.

Due to the diminished amount of collagen type I the sclerae are very transparent and thin, resulting in the characteristic blue colored eyes. OI patients can also present with normal or grey sclerae.

Other problems include cardiovascular symptoms due to valve insufficiencies and vascular dilations due to the prevalence of type I collagen in blood vessels and heart valves. Respiratory problems can be due to spine abnormalities. Further on there can be the occurrence of malignant hyperthermia, bruising, joint hypermobility and bone impressions.

The growth is always affected with children being slightly shorter than healthy siblings. Severe cases of OI present heights of less than one meter. The circumference of the skull is usually increased due to the normal brain pressure being greater than the pressure of the bone surrounding it [14].

With an existing X-Ray we can further classify the findings with the Hanscom Scale, which was described by Hanscom in 1992. There are six different types (A–F). “A” is characterized by a bending of the long bones and is present in about 31 % of cases. “B” adds biconcave vertebrae and can be found in about 7 % of cases. “C” is the two mentioned and a deformity of the pelvis (17 %). Patients in category “D” present with cysts (15 %). “E” shows no cortices of the long bones (9 %). Patients in the “F” category also have missing cortices of the ribs (3 %) [14].

Therapy should include physicians from multiple disciplines. Due to the variable clinical signs (short stature, bone deformities, fractures, decreased mineralization, thin ribs, bowed legs, coxa vara, kyphoscoliosis, platyspondyly, osteopenia, respiratory complications, dentinogenesis imperfecta, hearing difficulties, cardiovascular complications) it is essential for the treatment to involve a multidisciplinary team.

Physical therapy is essential to strengthen the posture and core of the patient. In all OI cases muscle training should be conducted in order to regain strength.

Dental treatment should be considered in all OI cases with dentinogenesis imperfecta. The possibility of tooth crowns in order to prevent infections and facial deformities should be discussed.

Pharmacological therapy with intravenous bisphonates is indicated in all types of OI. It has been proven that the therapy is able to increase the bone mineral density and therefore may reduce the incidence of fractures. There is also the option of growth hormones in order to counteract short stature, but this is still to be investigated in larger studies.

Surgery should be conducted on children with manifest OI. The surgical treatment of OI includes ideally one procedure in order to stabilize the bone and therefore increase the level of mobility and reduce the number of fractures. Large bone defects are challenging entities in pediatric orthopedics. Osteosynthesis of long bones using plates was used in the treatment plan. Seen in Figs. 33.1 and 33.2, a 4-year-old child was treated with a plate osteosynthesis in order to stabilize a fractured proximal femur. Soon thereafter, the weaker OI bone just bows around the solid metal and breaks at the base of the femoral neck. Karbowski et al. showed a re-fracture rate of 62 % in OI children who were treated by a plate-osteosynthesis [19].

The advantages of intramedullary nailing for large bone defects are well known. One method of intramedullary nailing is the technique of interlocking nails. Interlocking nails have a clear disadvantage in OI, because they are not able to grow with the bone, making revision operations compulsory. In 1959 Sofield et al. published his technique of multiple osteotomies after which he realigned the bone fragments over an intramedullary rod [20]. Complications occurred mainly because the rod was not telescopic, meaning it didn’t grow with the bone. Rod migration was seen as a common problem in the follow up of these early surgical attempts. A second way of treatment is using elastic stable intramedullary nails (ESIN). ESINs can be used in milder forms of OI. In Fig. 33.3, one can see that all implanted ESINs have been overgrown by bone. It is therefore essential to guarantee that the ESINs have a telescoping effect by fixing them in the proximal and distal epiphyses. In the 1960s telescopic rods were developed. These rods were fixed in the proximal and distal epiphyses of the long bones (Fig. 33.4a–f). The design allowed that the rods grow with the bone. These rods dramatically reduced the number of operations needed for one child, but complications were still recorded as being very high. The newly occurring problems were a fair amount of rod migration and, which was more severe, disconnection of the proximal and distal T-piece. Bailey and Dubow were the first two who published own results about their newly developed implant. In the 1980s a group from Sheffield improved the rod design with a fixed T-piece on either end, which was then rotated intra-operatively for better fixation. They reported fewer implant-related complications and a 20 % re-operation rate, but the insertion technique still required a knee arthrotomy for a femoral rod insertion and both knee and ankle arthrotomies for a tibial rod insertion. In 2003 the Fassier-Duval rod became available. The advantage of this new telescopic rod over the traditional rods is that the surgeon only needs to use one entry point through the epiphyseal plate. Reported results included a revision rate of 9 % at 2 years and 28 % at 3 years [21]. The Fassier-Duval Telescopic IM System is commercially available and approved by many health authorities, and therefore is in widespread use in pediatric orthopedic centers around the world.

The Fassier-Duval Rod is implanted by estimating the length of the female part of the implant on anteroposterior radiographs. After insertion of the guide wire proximally, the necessary osteotomies are performed (percutaneously or in an open technique) and the canal is reamed over the guide wire to the appropriate size. Alternatively, the guide wire for reaming is inserted retrograde through the osteotomy or fracture. Once the bone is aligned and reamed, the guide wire is replaced by the male rod using the male driver. The male rod is screwed into the distal epiphysis. The female rod is cut to size intraoperatively and inserted over the male rod and screwed into the proximal epiphysis/greater trochanter with the female driver. The male rod is thereafter cut flush with the female rod in the tibia and left protruding 10–15 mm in a femur using the male cutter that is designed to leave a smooth male rod end to allow telescoping.

Karbowski et al. examined the outcome of the Bailey-Dubow Nail system. 186 nails were inserted in 63 patients. The group concluded that rodding for the femoral bone can be recommend but one has to be cautious when using the nail in humeral or tibial OI fractures. Complication rates for the femur, tibia and humerus were given at 21, 52 and 57 % respectively. The most common complications were nail migration, detached T-pieces from the sleeve and also nail infections (Fig. 33.5a–j) [21].

One of the possible complications of the 1959 developed Bailey-Dubow Rod is the migration of the rod into the knee joint. In 2005 Radkowski et al. presented the case of a patient with significant rod migration. The patient was not able to move his knee due to severe pain. In this case it was possible to push the two rods back together during an arthroscopic operation. Arthroscopy may be a valuable tool to address these complications [22].

Birke et al. reviewed their first 24 FD rod insertions in 15 patients with a minimum follow up of one year. Most of the patients were diagnosed with OI. This group had an overall complication rate of 40 % (6 out of 15) with 5 cases due to rod migration and one case because of joint intrusion. OI patients treated with femoral and tibial FD-rods and an average follow-up of 18 months (12–29 months) had a reoperation rate of 13 % [23].

Ruck et al. presented promising 6-month follow-up results after femoral rodding in OI patients with a re-operation rate of only 14 %. Later, he presented a study of OI patients treated with tibial FD-rods with an average follow-up of 26 months (2–51 months) with the same reoperation rate of 14 % [21].

A common complication is shown by a clinical example (Fig. 33.6a, b). A Bailey-Dubow Nail was implanted into femur and tibia of a young patient. Four years postoperatively the control X-ray showed that the rod simply cut its way through the anterior cortical bone and its soft bone surrounding it (Fig. 33.6a). The revision surgery revealed that the real problem was not caused by the material or surgical technique but by the nature of the disease (Fig. 33.6b).

There were 108 children treated for OI at our clinic between 1991 and 2008. The average follow-up was 3.7 years and the children had a mean age of 15 years at the time of follow-up examination. We implanted a total of 186 Bailey-Dubow Rods of which 56.3 % into the femur, 34.6 % into the tibia and 9.1 % into the humerus (Fig. 33.7). An average of 3 osteotomies was needed for the femur, 2 for the tibia and 1 for the humerus. Our complication rate was 38 % but only 11 % of the children re-fractured. 36 of 108 children were able to walk after surgery. Unfortunately 72 remained bound to the wheelchair.

In conclusion one can say that intramedullary nailing of fractures of the long bones is the preferred method of treatment in osteogenesis imperfecta patients. OI is a syndrome in which the bone is weaker than regular bone. One has to understand that complications like the cutting out of the nail or bowing of the bone around the nail can occur in any method of treatment due to the nature of the disease. In early attempts it was tried to stabilize the bone with plates but soon we experienced that there was a high ratio of re-fractures at the weakest point, distal to the plate. Intramedullary nailing gives the opportunity to stabilize the bone from the inside. It still is not clear which type of rod shows the most effective way of treatment, because the Fassier-Duval Rod has only been in clinical use since 2003, whereas the Bailey-Dubow nail is in use since the 1960s.