preoperative picture the child has varus and inernal rotation

3 year old child with tibia vara  The child has varus and internal rotation deformity not correcting on serial follow up.

Proximal  Block is made with 2 K wires inserted parallel to knee joint and perpendicular to the tibia.

Distal block is made with 2 K wires inserted inserted parallel to ankle and perpendicular to distal tibia.

In the transverse plane the proximal wires are in axis of the knee joint ( inter epicondylar axis) and the distal wires 15 degrees internal to bimalleolar axis

The osteotomy is made at CORA with multiple drill holes made in transverse plane and completed with 5 mm osteotome

When the wires are braught parallel the varus and the rotational deformities are corrected

The wires are connected  with miniexternal fixation clamps

An antero posterior anti toggle wire is added to proximal and distal blocks

The fixator is removed once the osteotomy heals generally 6 weeks post op

Step 1

Step 2

-Taral Nagda

-Rajeev Niravane

Institute of Paediatric Orthopaedic Disorders

www.ipodindia.org

taralnagda@gmail.com

Who should do Ponseti treatment?

v      J Bone Joint Surg Am. 2009 May;91(5):1101-8.
Comparison of surgeon and physiotherapist-directed Ponseti treatment of idiopathic clubfoot.
Janicki JA, Narayanan UG, Harvey BJ, Roy A, Weir S, Wright JG.

• The introduction of the physiotherapist-supervised clubfoot clinic has been effective without compromising the quality of care of children with clubfoot deformity.

v      Ann R Coll Surg Engl. 2007 Jul;89(5):510-2.Ponseti treatment in the management of clubfoot deformity – a continuing role for paediatric orthopaedic services in secondary care centres.Docker CE, Lewthwaite S, Kiely NT.

• Similar results between tertiary Ped ortho dept and physiotherpy dept

v      J Bone Joint Surg Br. 2006 Aug;88(8):1085-9.
Early results of a physiotherapist-delivered Ponseti service for the management of idiopathic congenital talipes equinovarus foot deformity.
Shack N, Eastwood DM.

• Ponseti technique is suitable for use by non-medical personnel, but a holistic approach and good continuity of care are essential to the success of the programme

Can neglected CTEV be treated with Ponseti method?

v      J Pediatr Orthop B. 2009 Mar;18(2):76-8.Results of treatment of idiopathic clubfoot in older infants using the Ponseti method: a preliminary report.

Hegazy M, Nasef NM, Abdel-Ghani H.

The use of thePonseti method in older-aged infants with idiopathic congenital clubfoot seems to

be an effective method of treatment, obviating the need for extensive surgery.

v      J Bone Joint Surg Br. 2007 Mar;89(3):378-81.
Correction of neglected idiopathic club foot by the Ponseti method.
Lourenço AF, Morcuende JA. Brazil

Only 5/24 needed surgery

• Ponseti method is a safe, effective and low-cost treatment for neglected idiopathic club foot presenting after walking age.

v      Clin Orthop Relat Res. 2006 Mar;444:224-8.
Ponseti management of clubfoot in older infants.
Bor N, Herzenberg JE, Frick SL. Israel

older infants with clubfoot can be treated successfullywithout extensive surgery. Our results in older infants are similar to theresults of a previous study we conducted with younger infants

3 % rate of surgery in children less than 3 years

v      Arch Orthop Trauma Surg. 2006 Jan;126(1):15-21. Epub 2005 Nov 10.
Ponseti technique for the correction of idiopathic clubfeet presenting up to 1 year of age. A preliminary study in children with untreated or complexdeformities.
Göksan SB Turkey

• Our results show that the Ponseti technique is reproducible and effective in children at least up to 12months of age
• Only 3 % need extensive PMR

Ponseti method in post PMR cases??

v      Clin Orthop Relat Res. 2009 May;467(5):1298-305. Epub 2009 Feb 4.
Is it possible to treat recurrent clubfoot with the Ponseti technique after posteromedial release?: a preliminary study.
Nogueira MP, Ey Batlle AM, Alves CG.

• initial and final Pirani scores and range of motion of the ankle and subtalar joint. Plantigrade and fully corrected feet were obtained in 71 feet (86%); 11 feet obtained partial correction; one patient failed treatment and underwent another posteromedial release. Recurrences occurred in ninepatients (12 feet or 14%)

Does FAB give rise to femur/ knee/ tibial tortional deformities ?

v      J Pediatr Orthop. 2007 Sep;27(6):712-6.
Foot abduction brace in the Ponseti method for idiopathic clubfoot deformity: torsional deformities and compliance.
Boehm S, Sinclair M.

• Application of the foot abduction brace did not result in pathological changes of femoral anteversion or tibial torsion

Can Ponseti method avoid surgery?

v      Clin Orthop Relat Res. 2009 Apr 7.
Comparison of Ponseti versus Surgical Treatment for Idiopathic Clubfoot: A Short-term Preliminary Report.
Zwick EB, Kraus T, Maizen C, Steinwender G, Linhart WE.

• a favorable short-term outcome for the Ponseti method when compared with a traditional treatment protocol

v      Clin Orthop Relat Res. 2009 May;467(5):1271-7. Epub 2009 Jan 14.
Ponseti method: does age at the beginning of treatment make a difference?
Alves C, Escalda C, Fernandes P, Tavares D, Neves MC.

• according to their age at the  beginning of treatment; Group I was younger than 6 months and Group II was > 6 months.
• The rate of the Ponseti method in avoiding extensive surgery was 100% in Groups I and II;
• relapses occurred in 8% of the feet in older children

v      J Pediatr Orthop B. 2007 Sep;16(5):317-21.
Comparative results of the conservative treatment in clubfoot by two different protocols.
Cosma D, Vasilescu D, Vasilescu D, Valeanu M.

• The Ponseti method decreases the number of surgical interventions needed for the correction of the deformation compared with our traditional method.  5 % need surgery

v      Z Orthop Ihre Grenzgeb. 2006 Sep-Oct;144(5):497-501.
Treatment of congenital clubfoot with the Ponseti method
Eberhardt O, Schelling K, Parsch K, Wirth T.

• With the Ponseti methodthe need for extensive corrective surgery is greatly reduced. (2/41)

v      Pediatrics. 2004 Feb;113(2):376-80.
Radical reduction in the rate of extensive corrective surgery for clubfoot using the Ponseti method.
Morcuende JA, Dolan LA, Dietz FR, Ponseti IV

• 11 % relapse
• 3 % extensive surgery rate

What are the factors affecting relapse?

v      J Child Orthop. 2009 Jun 3.
Improved bracing compliance in children with clubfeet using a dynamic orthosis.
Garg S, Porter K.

• Non-compliance with foot abduction bracing in children with clubfeet treated with the Ponseti method is the leading risk factor for deformity recurrence.
• A dynamic foot abduction orthosis is believed to result in improved compliance, fewer skin complications, and fewer recurrences

v      J Bone Joint Surg Am. 2007 Mar;89(3):487-93.
Early clubfoot recurrence after use of the Ponseti method in a New Zealand population.
Haft GF, Walker CG, Crawford HA.

• Compliance with the postcorrection abduction bracing protocol is crucial to avoid recurrence of a clubfoot deformitytreated with the Ponseti method.
• When the parents comply with the bracingprotocol, the Ponseti method is very effective at maintaining a correction,although minor recurrences are still common.
• When the parents do not comply with the bracing protocol, many major and minor recurrences should be expected

v      Iowa Orthop J. 2007;27:82
Neuromuscular disease as the cause of late clubfoot relapses: report of 4 cases.
Lovell ME, Morcuende JA.

• Late relapses in patients with idiopathic clubfoot may represent the onset of a previously undiagnosed neuromuscular disease, and should be thoroughly evaluated.

v      J Pediatr Orthop. 2005 Mar-Apr;25(2):225-8.Use of the foot abduction orthosis following Ponseti casts: is it essential?
Thacker MM, Scher DM, Sala DA, van Bosse HJ, Feldman DS, Lehman WB

• The feet of patients compliant with FAOuse remained better corrected than the feet of those patients who were not compliant

v      J Bone Joint Surg Am. 2004 Jan;86-A(1):22-7.
Factors predictive of outcome after use of the Ponseti method for the treatment of idiopathic clubfeet.
Dobbs MB, Rudzki JR, Purcell DB, Walton T, Porter KR, Gurnett CA.

• Noncompliance and the educational level of the parents(high-school education or less) are significant risk factors for the recurrenceof clubfoot deformity after correction with the Ponseti method. The identification of patients who are at risk for recurrence may allow intervention to improve the compliance of the parents with regard to the use of orthotics,and, as a result, improve outcome

How does one treat a replapse?

v      Instr Course Lect. 2006;55:625-9.
Treatment of a recurrent clubfoot deformity after initial correction with the Ponseti technique.
Dietz FR.Department of Orthopaedics, University of Iowa, Iowa City, Iowa, USA.

• The indication for anterior tibial tendon transfer is the presence of dynamic supination during gait. After tendon transfer, bracing is no longer required because the eversion force of the transferred tendon maintainsthe correction

Is Ponseti method applicable to clubfoot with MMC?

v      J Bone Joint Surg Am. 2009 Jun;91(6):1350-9.
Early results of the Ponseti method for the treatment of clubfoot associated with myelomeningocele.
Gerlach DJ, Gurnett CA, Limpaphayom N, Alaee F, Zhang Z, Porter K, Kirchhofer M,
Smyth MD, Dobbs MB.

• Initial correction was achieved in twenty-seven clubfeet (96.4)
• Relapse of deformity was detected in 68% of the feet in the myelomeningocele group, compared with 26% of the feet in the idiopathic group (p = 0.001).
• Relapses were treated successfully without the need for extensive soft-tissue

v      Journal of Pediatric Orthopaedics. 29(4):393-397, June 2009.
Treatment of Neuromuscular and Syndrome-Associated (Nonidiopathic) Clubfeet Using the Ponseti Method
Joseph A. Janicki, MD,* Unni G. Narayanan, MBBS, MSc, FRCSC,Þ Barbara Harvey, BHScPT,

• Ponseti method is worth applying to nonidiopathic clubfeet in an attempt to avoid surgical release.
• Nonidiopathic clubfeet required significantly more casts (6.4 vs 4.8) to achieve initial correction and had a higher recurrence rate (44% vs 13%).

Is it necessary to change protocol in complex clubfoot ?

Clin Orthop Relat Res. 2006 Oct;451:171-6.
Treatment of the complex idiopathic clubfoot
Ponseti IV

• Modifying the treatment protocol for complex clubfeetsuccessfully corrected the deformity without the need for extensive correctivesurgery

Trigger thumb represents an abnormality of the flexor pollicis longus and its tendon sheath at the Al pulley. There is a palpable mass (Notta nodule), representing the flexor pollicis longus constriction at the Al pulley.

Is it always congenital?

In the past,trigger thumbs were defined as congenital. However, this

condition is acquired in the first

2 years of life, as indicated

by prospective screening of neonates who failed to yield any

trigger thumbs.

What causes CTT/CTF?

The cause appears to be a size mismatch between the flexor pollicis longus and the Al pulley that leads to progressive constriction. Unlike adult trigger digits, there does not appear to be an inflammatory component.

Can it be hereditary or associated with syndromes?

There is no familialinheritance pattern.30% of the cases are bilateral. Isolated trigger thumbs have no associated syndromes. However,trigger digits are seen with neurologic syndromes (trisomy18) and mucopol

ysaccharidoses.

When and how does a child with TT/TF present?

Trigger thumb patients present at ages ranging from infancy to school age. Often, the diagnosis is missed until local trauma brings attention to the thumb. In the emergency setting the flexed interphalangeal joint can be mistaken for an interphalangeal joint dislocation.Radiographs are misleading because of limited phalangeal ossification. A palpable nodule at the Al pulley is diagnostic.If the trigger is long-standing, compensatory hyperextension

of the MCP joint develops to effectively bring the thumb out of the palm. In addition, there may develop mild radial deviation of the interphalangeal joint secondary to eccentric flexor pull.

How is CTT/CTF treated?

In infants younger than 9 months of age, Dinham and Meggit found that 30% of trigger thumbs may resolve spontaneously. In infants older than 1 year of age, less than 10% of trigger thumbs resolved spontaneously. Ger et al.found lack of resolution with observation for 3 years in their patients. There is limited evidence that splinting will be of benefit, and often it is not well tolerated. Surgical release of the constricting Al pulley and flexor tendon sheath is the treatment of choice.

What are the indications for surgery

This is indicated in infants without spontaneous resolution by 1 year of age, and in any toddler or older child presenting with a locked trigger thumb.

What are the steps of the surgery?

1. Anaesthesia general with local block
2. Incision: Transversely in the digital crease to lessen scarring.
3. Deeper dissection: Perpendicular to incision. Care must be taken to avoid iatrogenic injury to the superficial digital neurovascular bundles. A1 pulley is releasd.
4. It is usually not necessary to excise a portion of this pulley nor to shave the nodule, which will disappear after the release.The oblique pulley needs to be preserved to prevent
   

   

   flexor tendon bowstringing.

5. The thumb is extended fully to be certain that the release is complete.
6. On ly the skin is closed
7. The thumb is placed in a light (child-proof) dressing for 1 week and then removed to allow return to the usual activities. No further treatment is required. The chance of recurrance are very few

How is trigger finger different from rigger thumb?

1. Trigger digits are more often multiple, and can be associated with central nervous system disorders and syndromes (trisomy 18, mucopolysaccharidoses).
2. The pathology appears to predominate at the decussation of the flexor tendons under the A2 pulley, and not at the Al pulley alone.
3. Th e tri ggering appears to occur as the flexor digitorum profundus passes through the chiasm of the flexor digitorum superficialis.
4. Surgic al recurrence is high in pediatric trigger digits. This may be because Al pulley release alone is not sufficient to solve the problem. Further opening of the chiasm or resection of a slip of the flexor digitorum superficialis is often necessary to prevent recurrence

Related Articles

The Natural History of Pediatric Trigger Thumb

Goo Hyun Baek, MD, Ji Hyeung Kim, MD, Moon Sang Chung, MD, Seung Baik Kang, MD, Young Ho Lee, MD and Hyun Sik Gong, MD

Department of Orthopedic Surgery, Seoul National University College of Medicine, 28 Yongon-dong, Chongno-gu, Seoul 110-744, South Korea. E-mail address for G.H. Baek: ghbaek@snu.ac.kr

Investigation performed at the Department of Orthopedic Surgery, Seoul National University College of Medicine, Seoul, South Korea

Background: Pediatric trigger thumb is a condition of flexion deformity of the interphalangeal joint in children. Although the surgical outcome is satisfactory, the indications for nonoperative treatment for this condition are not clear. The aim of the present study was to determine the rate of resolution of untreated pediatric trigger thumb.

Methods: Data on seventy-one thumbs in fifty-three children were collected prospectively. The dates of the first visits ranged from April 1994 to March 2004. Patients were diagnosed with pediatric trigger thumb during initial outpatient department visits. During the present study, no treatment such as passive stretching or splinting was applied. The amount of flexion deformity at the thumb interphalangeal joint was measured at every six-month follow-up visit, and the duration of follow-up was at least two years after diagnosis. The end point of follow-up was when the deformity caused pain or secondary deformity or prevented normal use of the hand. The median duration of follow-up was forty-eight months.

Results: Of the seventy-one trigger thumbs, forty-five (63%) resolved spontaneously. The median time from the initial visit to resolution was forty-eight months. There was no significant difference in the pattern of resolution between patients with unilateral and bilateral trigger thumb. Although resolution was not observed in the remaining twenty-six thumbs, flexion deformities improved in twenty-two thumbs. For the first two years after the initial visit, the mean flexion deformity significantly decreased over the one-year intervals (p < 0.05).

Conclusions: Pediatric trigger thumb can be expected to resolve without treatment in >60% of patients. Moreover, the flexion deformity can be expected to show an improving pattern in patients who do not have resolution. This information may help both parents and surgeons to make decisions regarding the treatment of pediatric trigger thumb.

Type I:

• OI Type I is the mildest and most common form of the disorder. It accounts for 50
percent of the total OI population.
• Type I manifests with mild bone fragility, relatively few fractures, and minimal limb
deformities. The child might not fracture until he or she is ambulatory.
• Shoulders and elbow dislocations may occur more frequently in children with OI than in
healthy children.
• Some children have few obvious signs of OI or fractures. Others experience multiple
fractures of the long bones, compression fractures of the vertebrae, and chronic pain.
• The intervals between fractures may vary considerably.
• After growth is completed, the incidence of fractures decreases considerably.
• Blue sclerae are often present.
Guide to Osteogenesis Imperfecta for Pediatricians and Family Practice Physicians 6
• Typically, a child’s stature may be average or slightly shorter than average as compared
with unaffected family members, but is still within the normal range for the age.
• There is a high incidence of hearing loss. Onset occurs primarily in young adulthood, but
it may occur in early childhood.
• Dentinogenesis imperfecta is often absent.
• OI Type I is dominantly inherited. It can be inherited from an affected parent, or, in
previously unaffected families, it results from a spontaneous mutation. Spontaneous
mutations are common.
• Biochemical tests on cultured skin fibroblasts show a lower-than-normal amount of type I
collagen. Collagen structure is normal.
• People with OI Type I experience the psychological burden of appearing normal and
healthy to the casual observer despite needing to accommodate their bone fragility.
• The absence of obvious symptoms in some children may contribute to problems at school
or with peers.
• Significant care issues that arise with OI Type I include gross motor developmental
delays, joint and ligament weakness and instability, muscle weakness, the need to prevent
fracture cycles, and the necessity of spine protection. (See “Behavioral and Lifestyle
Modifications,” page 13.) Children with OI and their parents will need emotional support
at each new developmental stage. Family members should carry documentation of the OI
diagnosis to avoid accusations of child abuse at emergency rooms.
• The treatment plan should maximize mobility and function, increase peak bone mass, and
develop muscle strength. Physical therapy, early intervention programs, and as much
exercise and physical activity as possible will improve outcomes.

Type II:

• OI Type II is the most severe form.
• At birth, infants with OI Type II have very short limbs, small chests, and soft skulls.
Their legs are often in a frog-leg position.
• The radiologic features are characteristic and include absent or limited calvarial
mineralization; flat vertebral bodies; very short, telescoped, broad femurs; beaded and
often broad short ribs; and evidence of malformation of the long bones.
• Intrauterine fractures will be evident in the skull, long bones, or vertebrae.
• The sclerae are usually very dark blue or gray.
• The lungs are underdeveloped.
• Infants with OI Type II have low birth weights.
• Respiratory and swallowing problems are common.
• Macrocephaly may be present. Microcephaly is rarely present.
• Infants with OI Type II usually die within weeks of delivery. A few may survive longer;
they usually die of respiratory and cardiac complications.
• OI Type II results from a new dominant mutation in a type 1 collagen gene or parental
mosaicism. Similar extremely severe types of OI, Types VII and VIII, can be caused by
recessive mutations to other genes. (See “Type VII” and “Type VIII,” pages 9 and 10.)
• Genetic counseling is recommended for parents of a child with OI Type II before any
future pregnancies.
• Significant care issues that arise with OI Type II include obtaining an accurate diagnosis,
Guide to Osteogenesis Imperfecta for Pediatricians and Family Practice Physicians 7
getting genetic counseling, the family’s need for emotional support, and management of
respiratory and cardiac impairments. Infants with OI Type II who can breathe without a
respirator and those with severe OI Type III may be candidates for off-label treatment
with bisphosphonates. At this time, pamidronate (Aredia*) is the only bisphosphonate
that has been studied in infants who have OI. Treatment research is ongoing. (See “Drug
Therapies – Bisphosphonates,” page 15.)
*Brand names included in this publication are provided as examples only, and their inclusion does not mean
that these products are endorsed by the National Institutes of Health or any other Government agency. Also, if a
particular brand name is not mentioned, this does not mean or imply that the product is unsatisfactory.

Type III:

• OI Type III is the most severe type among children who survive the neonatal period. The
degree of bone fragility and the fracture rate vary widely.
• This type is characterized by structurally defective type I collagen. This poor-quality type
I collagen is present in reduced amounts in the bone matrix.
• At birth, infants generally have mildly shortened and bowed limbs, small chests, and a
soft calvarium.
• Respiratory and swallowing problems are common in newborns.
• There may be multiple long-bone fractures at birth, including many rib fractures.
• Frequent fractures of the long bones, the tension of muscle on soft bone, and the
disruption of the growth plates lead to bowing and progressive malformation. Children
have a markedly short stature, and adults are usually shorter than 3 feet, 6 inches, or
102 centimeters.
• Spine curvatures, compression fractures of the vertebrae, scoliosis, and chest deformities
occur frequently.
• The altered structure of the growth plates gives a popcorn-like appearance to the
metaphyses and epiphyses.
• The head is often large relative to body size.
• A triangular facial shape, due to overdevelopment of the head and underdevelopment of
the face bones, is characteristic.
• The sclerae may be white or tinted blue, purple, or gray.
• Dentinogenesis imperfecta is common but not universal.
• The majority of OI Type III cases result from dominant mutations in type I collagen
genes. Often these mutations are spontaneous. Similar extremely severe types of OI,
Types VII and VIII, are caused by recessive mutations to other genes. (See “Type VII”
and “Type VIII,” pages 9 and 10.)
• Genetic counseling is recommended for asymptomatic parents of a child with OI Type III
before any future pregnancies.
• Significant care issues that arise with OI Type III include the need to prevent fracture
cycles; the appropriate timing of rodding surgery; scoliosis monitoring; respiratory
function monitoring; the need to develop strategies to cope with short stature and fatigue;
the family’s need for emotional support, especially during the patient’s infancy; and the
off-label use of bisphosphonates. (See “Drug Therapies – Bisphosphonates,” page 15.)
• It is also important to address difficulties with social integration, participation in leisure
activities, and maintaining stamina.
• The treatment plan should maximize mobility and function, increase peak bone mass and
Guide to Osteogenesis Imperfecta for Pediatricians and Family Practice Physicians 8
muscle strength, and employ as much exercise and physical activity as possible.

Type IV:

• People with OI Type IV are moderately affected. Type IV can range in severity from
relatively few fractures, as in OI Type I, to a more severe form resembling OI Type III.
• The diagnosis can be made at birth but often occurs later.
• The child might not fracture until he or she is ambulatory.
• People with OI Type IV have moderate-to-severe growth retardation, which is one factor
that distinguishes them clinically from people with Type I.
• Bowing of the long bones is common, but to a lesser extent than in Type III.
• The sclerae are often light blue in infancy, but the color intensity varies. The sclerae may
lighten to white later in childhood or early adulthood.
• The child’s height may be less than average for his or her age.
• Short humeri and femora are common.
• Long bone fractures, vertebral compression, scoliosis, and ligament laxity may also
be present.
• Dentinogenesis imperfecta may be present or absent.
• OI Type IV has an autosomal dominant pattern of inheritance. Many cases are the result
of a new mutation.
• This type is characterized by structurally defective type I collagen. This poor-quality type
I collagen is present in reduced amounts in the bone matrix.
• Significant care issues that arise with OI Type IV include the need to prevent fracture
cycles; the appropriate timing of rodding surgery; scoliosis monitoring; the need to
develop strategies for coping with short stature and fatigue; the family’s need for
emotional support, especially during the patient’s infancy; and the off-label use of
bisphosphonates. (See “Drug Therapies – Bisphosphonates,” page 15.)
• Family members should carry documentation of the OI diagnosis to avoid accusations of
child abuse at emergency rooms.
• It is also important to address difficulties with social integration, participation in leisure
activities, and maintaining stamina.
• The treatment plan should maximize mobility and function, increase peak bone mass and
muscle strength, and employ as much exercise and physical activity as possible.
Microscopic studies of OI bone, led by Francis Glorieux, M.D., Ph.D., at the Shriners Hospital
for Children in Montreal, have identified a subset of people who are clinically within the OI
Type IV group but have distinctive patterns to their bone. Review of the clinical histories of
these people uncovered other common features. As a result of this research, two types – Type V
and Type VI – were added to the Sillence Classification. Regarding these types, it is important to
note the following:
• They do not involve deficits of type 1 collagen.
• Treatment issues are similar to OI Type IV.
• Diagnosis requires specific radiographic and bone studies.
Guide to Osteogenesis Imperfecta for Pediatricians and Family Practice Physicians 9

Type V:

• OI Type V is moderate in severity. It is similar to OI Type IV in terms of frequency of
fractures and the degree of skeletal deformity.
• The most conspicuous feature of this type is large, hypertrophic calluses in the largest
bones at fracture or surgical procedure sites.
• Hypertrophic calluses can also arise spontaneously.
• Calcification of the interosseous membrane between the radius and ulna restricts forearm
rotation and may cause dislocation of the radial head.
• Women with OI Type V anticipating pregnancy should be screened for hypertrophic
callus in the iliac bone.
• OI Type V is dominantly inherited and represents 5 percent of moderate-to-severe
OI cases.

Type VI:

• OI Type VI is extremely rare. It is moderate in severity and similar in appearance and
symptoms to OI Type IV.
• This type is distinguished by a characteristic mineralization defect seen in biopsied bone.
• The mode of inheritance is probably recessive, but it has not yet been identified.
Recessively Inherited Types of OI (Types VII and VIII):
• Two recessive types of OI, Types VII and VIII, were recently identified. Unlike the
dominantly inherited types, the recessive types of OI do not involve mutations in the type 1
collagen genes.
• These recessive types of OI result from mutations in two genes that affect collagen
posttranslational modification:
― the cartilage-associated protein gene (CRTAP)
― the prolyl 3-hydroxylase 1 gene (LEPRE1).
• Recessively inherited OI has been discovered in people with lethal, severe, and moderate OI.
There is no evidence of a recessive form of mild OI. Recessive inheritance probably accounts
for fewer than 10 percent of OI cases.
• Parents of a child who has a recessive type of OI have a 25 percent chance per pregnancy of
having another child with OI. Unaffected siblings of a person with a recessive type have a 2
in 3 chance of being a carrier of the recessive gene.

Type VII:

• Some cases of OI Type VII resemble OI Type IV in many aspects of appearance and
symptoms.
• Other cases resemble OI Type II, except that infants have white sclerae, small heads and
round faces.
• Short humeri and femora are common.
• Short stature is common.
• Coxa vara is common.
• OI Type VII results from recessive inheritance of a mutation in the CRTAP gene. Partial
(10 percent) expression of CRTAP leads to moderate bone dysplasia. Total absence of the
cartilage-associated protein has been lethal in all identified cases.
Guide to Osteogenesis Imperfecta for Pediatricians and Family Practice Physicians 10

Type VIII:

• Cases of OI Type VIII are similar to OI Types II or III in appearance and symptoms
except for white sclerae.
• OI Type VIII is characterized by severe growth deficiency and extreme undermineralization
of the skeleton.
• It is caused by absence or severe deficiency of prolyl 3-hydroxylase activity due to
mutations in the LEPRE1 gene.
Additional Forms of OI
The following conditions are rare, but they feature fragile bones plus other significant symptoms.
More detailed information on them can be found in Pediatric Bone: Biology and Diseases,
Glorieux et al, 2003.
• Osteoporosis-Pseudoglioma Syndrome: This syndrome is a severe form of OI that also
causes blindness. It results from mutations in the low-density lipoprotein receptor-related
protein 5 (LRP5) gene.
• Cole-Carpenter Syndrome: This syndrome is described as OI with craniosynostosis and
ocular proptosis.
• Bruck Syndrome: This syndrome is described as OI with congenital joint contractures.
It results from mutations in the procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
(PLOD2) gene encoding a bone-specific lysyl-hydroxylase. This affects collagen
crosslinking.
• OI/Ehlers-Danlos Syndrome: This recently identified syndrome features fragile bones
and extreme ligament laxity. Young children affected by this syndrome may experience
rapidly worsening spine curves.

Osteogenesis imperfecta (OI) is a genetic disorder characterized by fragile bones that break easily. It is also known as “brittle bone disease.” A person is born with this disorder and is affected throughout his or her life time.

What causes OI

OI is caused by an error called a mutation on a gene that affects the body’s production of the collagen found in bones, and other tissues. It is not caused by too little calcium or poor nutrition.

Genetics

* The majority of cases are caused by a dominant mutation to type 1 collagen (COL1A1 or COL1A2) genes
* Other types are caused by mutations of the cartilage-associated protein (CRTAP) gene or the LEPRE1 gene. This type of mutation is inherited in a recessive manner.
* OI occurs with equal frequency among males and females and among all racial and ethnic groups.
* Approximately 35% of children with OI are born into a family with no family history of OI. Most often this is due to a new mutation to a gene and not by anything the parents did before or during pregnancy

What are the types of OI

OI is variable with 8 different types described in medical literature.The types range in severity from a lethal form to a milder form with few visible symptoms. The specific medical problems a person will encounter will depend on the degree of severity.A person with mild OI may experience a few fractures while those with the severe forms may have hundreds in a lifetime.

How does one diagnose OI?

Diagnosis for OI is primarily based on signs seen in a doctor’s examination. When there is uncertainty about the diagnosis, it is best to consult a physician who is familiar with OI. Genetic testing is available to confirm a diagnosis of OI through collagen or gene analysis—a skin sample or a blood sample are used to study the amount of Type I collagen or to do a DNA analysis.

What are the Health issues frequently seen in children and adults with  OI ?

• Short stature
• Weak tissues, fragile skin, muscle weakness, and loose joints
• Bleeding, easy bruising, frequent nosebleeds and in a small number of people heavy bleeding from injuries
• Hearing loss may begin in childhood and affects approximately 50% of adults
• Breathing problems, higher incidence of asthma plus risk for other lung problems
• Curvature of the spine

Types of OI

What is the treatment for osteogenesis imperfecta

The team:

Doctors who see children and adults with OI include primary care physicians, orthopedists, endocrinologists, geneticists and physiatrists (rehabilitation specialists). Other specialists such as a neurologist may be needed.

The goals:

• At this time, there is no cure.
• Treatments focuses on minimizing fractures,  maximizing mobility, maximizing independent function and general health
• Treatments include
  • Physical therapy and safe exercise including swimming
  • Casts, splints or wraps for broken bones
  • Braces to support legs, ankles, knees and wrists as needed
  • Orthopedic surgery, often including implanting rods to support the long bones in arms or legs
  • Medications to strengthen bones
  • Mobility aids such as canes, walkers, or wheelchairs and other equipment or aids for independence may be needed to compensate for weakness or short stature.

• Treatment to improve bone strength

• Medications
• Bisphosphonates (pamidronate/ alendronate/zoledronic acid)
• Growth Hormone
• Increased vitamin D intake
• Physical activity
• Potential for gene therapy

What is the prognosis for children and adult with OI?

The prognosis for a person with OI varies greatly depending on the number and severity of symptoms.

• Life expectancy is not affected in people with mild or moderate symptoms.
• Life expectancy may be shortened for those with more severe symptoms.
• The most severe forms result in death at birth or during infancy.

Respiratory failure is the most frequent cause of death for people with OI, followed by accidental trauma.Despite the challenges of managing OI, most adults and children who have OI lead productive and successful lives. They attend school, develop friendships and other relationships, have careers, raise families, participate in sports and other recreational activities and are active members of their communities.

Managing OI

• Techniques for safe handling, protective positioning and safe movement are taught to parents
• Infancy, early childhood and the pre-teen years are often challenging
• Growth and hormonal changes can affect the frequency of fractures
• Children and youth learn which activities to avoid and how to practice energy conservation
• The number of fractures usually decreases in adulthood
• Following a healthy lifestyle including not smoking, and maintaining a healthy weight is beneficial