Abstract
Osteopetrosis is a genetic syndrome characterized by the failure of osteoclasts to resorb bone. This leads to skeletal fragility despite increased bone mass, with fractures, dental abscesses, osteoarthritis and scoliosis being the most common complications. There are few reports of patients with type II osteopetrosis undergoing pregnancy and delivery. This case outlines the management of pregnancy and a successful delivery in a woman with this rare condition.
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References
1.
Albers-Schonberg
H
. Roentgenbilder einer seltenen Knochennerkrankung . Munch Med Wochenschr
1904 ;51 :365
2.
Del Fattore
A
,
Cappariello
A
,
Teti
A
. Genetics, pathogenesis and complications of osteopetrosis . Bone
2008 ;42 :19 –29
3.
Stark
Z
,
Savarirayan
R
. Osteopetrosis . Orphanet J Rare Dis
2009 ;4 :5
4.
Superti-Furga
A
,
Unger
S
, the Nosology Group of the International Skeletal Dysplasia Society . Nosology and classification of genetic skeletal disorders: 2006 Revision . AM J Med Genet
2007 ;143A :1 –18 . See http://www.isds.ch/ISDSframes.html
(last checked 1 August 2011 )
5.
Bollerslev
J
,
Mosekilde
L
. Clin Autosomal dominant osteopetrosis . Orthop Relat Res
1993 :294 :45 –51
6.
Schulz
A
,
Kornak
U
. CLCN7-related osteopetrosis. E-pub 2007 Feb 12 . In:
Pagon
RA
,
Bird
TD
,
Dolan
CR
,
Stephens
K
, eds. Gene Reviews . Seattle (WA) : University of Washington, Seattle , 1993–
7.
Tolar
J
,
Teitelbaum
SL
,
Orchard
PJ
. Mechanisms of disease: osteopetrosis . New Eng J Med
2004 ;351 :2839 –49
8.
Anderson
HE
. Pregnancy complicated by Osteopetrosis – report of a case . J Bone Joint Surg Am
1938 ;20 :481 –5
9.
Sen
C
,
Madazli
R
,
Aksoy
F
,
Ocak
V
. Antenatal diagnosis of lethal osteopetrosis . Ultrasound Obstet Gynecol
1995 ;5 :278 –80
10.
Malinger
G
,
Ornoy
A
,
El Shawwa
R
,
Zakut
H
,
Kohn
G
.
Osteopetrosis. 1994-07-08-12 Osteopetrosis© Malinger. See http://www.sonoworld.com/TheFetus/page.aspx?id=366
(last checked 1 August 2011 )
11.
Shalev
H
,
Mishori-Dery
A
,
Kapelushnik
J
, Prenatal diagnosis of malignant osteopetrosis in Bedouin families by linkage analysis . Prenat Diagn
2001 ;21 :183 –6