|
| Types | OI syndromic names | Gene | Inheritance | Postnatal clinical characteristics | Anesthetic concerns |
|
| Type I | Nondeforming OI with blue sclera | COL1A1
COL1A2 | AD
AD | Rarely congenital fractures; low bone mass; deformity of spine or long bones is uncommon; higher frequency of long bone fractures in presence of dentinogenesis imperfecta (DI); near normal growth velocity and height; ambulant; blue-gray sclera; susceptible to conductive hearing loss; absence of chronic bone pain or minimal pain controlled by simple analgesics | Bone fractures during extremity manipulation (e.g., positioning, PIV placements with tourniquet), dental damage during oropharyngeal instrumentation, difficulty of hearing, hyperthermia or malignant hyperthermia, platelet dysfunction, capillary fragility |
|
| Type II | Perinatally lethal OI | COL1A1
COL1A2
CRTAP
LEPRE1
PPIB | AD
AD
AR
AR
AR | Ribs with continuous or discontinuous fracture; crumpled (accordion-like) long bones and multiple fractures; thighs abducted and in external rotation; all vertebrae hypoplastic/crushed; clinical indicators of severe chronic pain; small thorax; respiratory distress leading to perinatal death | Most prenatally diagnosed pregnancies are terminated. Rarely do these patients survive to adulthood. Pain relief is valuable |
|
| Type III | Progressively deforming | COL1A1
COL1A2
BMP1
CRTAP
FKBP10
LEPRE1
PLOD2
PPIB
SERPINF1
SERPINH1
TMEM38B
WNT1
CREB3L1 | AD
AD
AR
AR
AR
AR
AR
AR
AR
AR
AR
AR
AR | Usually near term; newborn or infant presentation with bone fragility and multiple fractures; platyspondyly vertebrae at birth; thin ribs with discontinuous beading/fractures; marked short stature; progressive kyphoscoliosis and bowing of legs; generalized osteoporosis/osteopenia; increased prevalence of basilar impression; possibly having blue sclera at birth; DI is variable; hearing loss is more frequent in adults; possibly having cardiovascular complications such as valvular dysfunction or aortic root dilation | Bone fractures during extremity manipulation, posterior fossa compression syndromes due to basilar impression from cervical manipulation, pulmonary insufficiency or hypertension, cardiopulmonary failure, hyperthermia or malignant hyperthermia, platelet dysfunction, capillary fragility, postoperative pain control |
|
| Type IV | Common variable OI with normal sclera | COL1A1
COL1A2
WNT1
CRTAP
PPIB
SP7
PLS3 | AD
AD
AD
AR
AR
AR
XL | Variable severity; recurrent fractures; vertebral compression fractures; osteoporosis; variable degrees of deformity of long bones and spine (thoracolumbar kyphoscoliosis); bowing of long bones; short stature, possibly being wheelchair bound; normal sclera; DI; increased prevalence of basilar impression (5 times higher relative risk in those with DI); hearing impairment is not often encountered; possibly having chronic bone pain; possibly having cardiovascular complications such as valvular dysfunction or aortic root dilation | Bone fracture or dislocation, dental damage, posterior fossa compression syndromes, pulmonary insufficiency or hypertension, cardiorespiratory failure, hyperthermia or malignant hyperthermia, platelet dysfunction, postoperative pain control |
|
| Type V | OI with calcification in interosseous membranes | IFITM5 | AD | No congenital fractures; distinguished by calcification of interosseous membrane in forearms; increased risk of developing hyperplastic callus; restriction of pronation and supination of forearms; radial head dislocations; bowing of long bones in some patients; vertebral compression fractures; no DI presence; white sclera | Bone fractures and dislocations during extremity manipulation, indomethacin recommended to avert callus progression, hyperthermia or malignant hyperthermia, platelet dysfunction, capillary fragility |
|
