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TABLE 31.1
OI Types and Clinical findings, including Blue sclerae (from Byers et al.)
OI type
(MIM#)
Hearing
Loss
Inheritance (gene)
Severity
Fractures
Bone Deformity
Stature
DI
Sclerae
I (#166200)
AD (COL1A1 or
COL1A2)
Mild
Few to 100
Uncommon
Normal or slightly
short for family
Rare
Blue
Present in
about 50%
II (#166210)
AD (CO1A1 or
COL1A2)
Perinatal lethal
Multiple
Severe
Severely short
stature
+
Dark blue
−
III (#259420)
AD (COL1A1 or
COL1A2)
Severe
Multiple
Moderate to severe
Very short
+
Blue at birth, becoming
normal with age
Frequent
IV (#166220)
AD (COL1A1 or
COL1A2)
Moderate to mild
Multiple
Mild to moderate
Variably short
stature
Normal to gray
Some
+/−
V (#610967)
AD (IFITM5)
Moderate
Multiple
Moderate
Variable
No
Normal
No
VI (#613982)
AR (SERPINF1)
Moderate
Multiple
Severe, mineralization
defect
Normal to short
stature
No
Normal to blue or gray
No
VII (#610682)
AR (CRTAP)
Moderate to lethal
Multiple
Ye s
Mild short stature
No
Normal to faintly blue
No
VIII (#610915)
AR (LEPRE1)
Lethal/severe
Multiple
Moderate to severe;
bulbous “popcorn”
epiphyses
Short-limbed
dwarism
No
Normal
Not reported
IX (#259440)
AR (PPIB)
Lethal/severe
Multiple
Moderate to severe
Short-limbed
dwarism
+
Blue
No
X (#613848)
AR (SERPINH1)
Severe
Multiple
Multiple
Short
+
Blue sclera, shallow
orbits
Not reported
XI (#610968)
AR (FKBP10); rarely AD
with parental mosaicism
Moderate
Multiple
Moderate
Mild short stature
Rare
Normal to faintly blue
No
XII (#613849)
AR (SP7)
Moderate to mild
Repeated
Mild
Short
No
Normal
No
XIII (#614856)
AR (BMP1)
Moderate
Multiple
Severe
Short in some
No
Faint blue in some
Not reported
XIV (#615066)
AR (TMEM38B)
Variable
Multiple
Variable
Variable
No
Normal
No
Modiied and updated from: (1) Steiner RD, Pepin MG, Byers PH. Osteogenesis imperfecta. GeneReviews at GeneTests: Medical Genetics Information Resource, January 2005, (2)
www.uptodate.com
, “OI: Clinical features and
diagnosis,” (3) OMIM 2013.
AD: autosomal dominant; AR: autosomal recessive; DI: dentinogenesis imperfecta.
