Академический Документы
Профессиональный Документы
Культура Документы
AKA:
DEFINITION
Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by fragile
bones, weak muscles, and loose ligaments. Bone problems can include bowing of the
long bones, scoliosis (curvature of the spine), a barrel chest, and joint problems. Varying
degrees of short stature and decreased muscle mass and strength may also be present.
RISKFACTORS
S/SX
• Bones that fracture easily
• Short stature
• Hearing loss
• Discolored, brittle teeth
• Blue sclera (blue color in the whites of the eyes)
• Skeletal deformities of limbs, chest, and skull
• Scoliosis (curvature of the spine)
• Respiratory difficulties
• Weak muscles
• Excessive sweating
• Constipation
• Tendency to bruise easily
• Loose joints and ligaments
• High-pitched voice
History:
• Easy bruising
• Repeated fracture after mild trauma. However, these fractures heal readily.
Physical: Physical examination can vary depending on the type. It forms the basis for
Sillence classification.
• Type I
• Type II
o Dentinogenesis imperfecta
o Blue sclera may be present.
o Hearing loss is not applicable to type II OI.
o Perinatal lethality
o Small nose, micrognathia
o Connective tissue fragility
o In utero fractures are present in 100% cases
o Short trunk
• Type III
o Dentinogenesis imperfecta
o Sclera of variable hue
o No hearing loss
o In-utero fractures in 50% of cases (The remaining half of cases have
fractures in neonatal period.)
o Limb shortening and progressive deformities
o Triangular facies with frontal bossing
o Pulmonary hypertension
• Type IV
• Type III is autosomal dominant with new mutation. Rarely, recessive forms also
are observed.
Medical Care:
• No medical therapy is involved, other than the treatment of infections when they
occur.
• For severe cases presenting with severe osteopenia and repeated fractures, cyclic
administration of intravenous aminohydroxypropylidene (ie, pamidronate) may
reduce the incidence of fracture and increase bone mineral density.
Surgical Care: Surgical interventions include intramedullary rodding, surgery for basilar
impression, and correction of scoliosis.
• Intramedullary rodding
o In patients with type III OI, intramedullary rodding may improve weight
bearing on legs, thus, enabling the child to walk at an earlier age.
• Surgery for basilar impression is reserved for cases with neurological deficiencies,
especially those caused by compression of brain stem and high cervical cord.
• Correction of scoliosis
Consultations:
• Genetic counseling
o Offer genetic counseling to the parents of a child with OI who plan to have
subsequent children.
o During genetic counseling, the possibility that the parents may harbor new
mutations, such as asymptomatic somatic and germline mosaicism, needs
to be discussed.
COMPLICATIONS
• Cord compression
NI
Management focuses on supportive therapy to minimize fractures and maximize function,
minimize disability, foster independence, and maintain overall health. Ideally, OI is
managed by a multidisciplinary team including specialists in medical therapy of OI,
orthopedics, and rehabilitation medicine. Supportive therapy is individualized depending
upon the severity, the degree of impairment, and the age of the affected individual.
Considerable support is generally required by medical personnel to help parents feel
comfortable caring for infants with OI type II.
Activity:
Children with OI should be seen by the dentist twice yearly, beginning in early childhood
or even infancy.
Hearing evaluation should be performed at 3-5 year intervals after adolescence until
hearing loss is identified.
DX
Diagnosis/testing. The clinical diagnosis of OI is based on family history, a history of
fractures, characteristic physical findings including scleral hue, and radiographic
findings. Radiographic findings include fractures of varying ages and stages of healing,
wormian bones, "codfish" vertebrae, and osteopenia. Analysis of bone biopsies is an
adjunct to the diagnosis of OI type V and OI type VI. Biochemical testing (i.e., analysis
of the structure and quantity of type I collagen synthesized in vitro by cultured dermal
fibroblasts) detects abnormalities in 98% of individuals with OI type II, about 90% with
OI type I, about 84% with OI type IV, and about 84% with OI type III. About 90% of
individuals with OI types I, II, III, and IV (but none with OI types V, VI and VII) have an
identifiable mutation in either COL1A1 or COL1A2. Such testing is clinically available.
* Carrier Detection
Carrier testing using molecular genetic techniques is not offered because it is not
clinically available.