Case Reports in Medicine / 2016 / Article / Tab 1

Case Report

Anesthetic Management in a Gravida with Type IV Osteogenesis Imperfecta

Table 1

Classification of osteogenesis imperfecta and related anesthetic concerns [4, 6].

TypesOI syndromic namesGeneInheritancePostnatal clinical characteristicsAnesthetic concerns

Type INondeforming OI with blue scleraCOL1A1
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 analgesicsBone 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 IIPerinatally lethal OICOL1A1
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 deathMost prenatally diagnosed pregnancies are terminated. Rarely do these patients survive to adulthood. Pain relief is valuable

Type IIIProgressively deformingCOL1A1
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 dilationBone 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 IVCommon variable OI with normal scleraCOL1A1
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 dilationBone 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 VOI with calcification in interosseous membranesIFITM5ADNo 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 scleraBone fractures and dislocations during extremity manipulation, indomethacin recommended to avert callus progression, hyperthermia or malignant hyperthermia, platelet dysfunction, capillary fragility

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