Open Journal of Pediatrics, 2011, 1, 64-66 OJPed
doi:10.4236/ojped.2011.14015 Published Online December 2011 (http://www.SciRP.org/journal/ojped/)
Published Online December 2011 in SciRes. http://www.scirp.org/journal/OJPed
Osteogenesis imperfecta and complications due to pelvic
narrowing: case and review
Jakob Bie Granild-Jensen1, Line Granild Bie Mertz2, Soren Rittig3, Gratien Andersen4,
John Rosendahl Oestergaard5*
1Department of Paediatrics, Aarhus University Hospital, Skejby, Denmark;
2Paediatric Research Laboratory, Aarhus University Hospital, Skejby, Denmark;
3Department of Paediatric Nephrology, Aarhus University Hospital , Sk ejby, Denmark;
4Department of Radiology, Aarhus University Hospital, Skejby, Denmark;
5Center of Rare Diseases, Aarhus University Hospital, Skejby, Denmark.
Received 2 October 2011; revised 14 November 2011; accepted 26 November 2011.
ABSTRACT
We describe a case of pelvic narrowing in a patient
with osteogenesis imperfecta (OI) type III and com-
plications consisting of deep venous thrombosis, hy-
dronephrosis and faeculomas. The literature is re-
viewed and the management is discussed. Conclusion:
Monitoring of OI type III patients for pelvic narrow-
ing and complications is recommended.
Keywords: Acetabular Pro trusion; Bisphosphonate; Cons-
tipation; Deep Venous Thrombosis; Hydronephrosis; Pel-
vis
1. INTRODUCTION
Osteogenesis imperfecta (OI) is a rare genetic disorder
of type 1 collagen resulting in connective tissue abnor-
malities. Varying degrees of bone fragility and skeletal
deformity are the main characteristics, other important
features being dentinogenesis imperfecta and blue sclerae.
Based on phenotype and genotype OI is divided into sub-
types [1-3].
Pelvic narrowing has been described in a number of
disorders of bone metabolism [4]. In OI, pelvic narrow-
ing is probably a consequence of both fractures and bone
remodeling. Complications due to pelvic narrowing have
been described. Most frequently it is associated with
constipation [5].
We report on a girl with OI type III and a triad of gas-
trointestinal, vascular and urologic complications due to
narrowing of the pelvis. The management and outcome
is described and the literatu re is reviewed.
2. CASE REPORT
The report concerns a girl born in 1997 in a family with
no history of OI. OI was suspected shortly after her birth
in 1997 due to congenital femur and rib fractures and
blue sclerae. The diagnosis was confirmed by skin bi-
opsy revealing a structural abnormality without quantita-
tive deficiency of type I collagen consisten t with OI type
III or IV. Exons of all abnormal peptides were sequenced,
but no pathogenic mutation was identified. During the
first year of life, she had more than 25 fractures. The rate
of fractures was reduced by approximately 50% after
repeated bisphosphonate infusions were started (pami-
dronate 9 - 12 mg/kg/year from 1998 to 2007, thereafter
4.5 - 6 mg/kg/year). Furthermore, during the initial 4
years she had telescopic rods placed in the humerus,
radius, femur and tibia bilaterally. During 2004-2006 sh e
had few, but recurrent episodes of abdominal pain and
constipation despite the use of laxatives. She had no
urological complaints or urinary tract infections during
her first 10 years of life. In March 2007, she was admit-
ted with left-sided abdominal pain. An ultrasonography
disclosed a left hydronephrosis. The pain faded after
placement of a nephrostomy tube. Two months later, she
was re-admitted, now with severe abdominal pain and
constipation. A few weeks earlier, morphine was admin-
istered due to fractures and pain. Large faecal masses
were palpated in the abdomen. At this time, her left leg
became red and swollen and as a thrombosis of the left
iliac vein was found by ultrasonography, low molecular
weight heparin administration was initiated. CT scan of
the pelvic region revealed wedging of the sigmoid colon
between the left superior ramus of the pubic bone and
the vertebral column. She had bilateral hydronephrosis
and hydro-ureter. No calculi were visible. In the sigmoid
and transverse colon she had several faeculomas. During
operation, it was necessary to do a resection of the sig-
moid colon and perform a colostomy. After the operation

J. B. Granild-Jensen et al. / Open Journal of Pediatrics 1 (2011) 64-66 65
the patient recovered remarkably, and repeated ultra-
sonography showed improvement of the hydronephrosis
on the left side. Kidney function measured as GFR by
51-chrome-EDTA clearance was normal. The severe
pelvic narrowing was found due to an almost 90 degree
lumbosacral lordosis leaving a space of only 10.3 mm
between the vertebral column and the pubic bones (Fig-
ures 1 and 2).
Six months later, a MAG3 renography revealed a
great decline in right kidney function (right/left 26%/
74%) and a cystoscopy showed pelvic bladder compres-
sion and dilation of the right ureter and pelvis. Orthope-
Figure 1. Sagittal mu lti planar reconstruction (MPR) of the lum-
bosacral spine and pelvis.
Figure 2. 3D Volume rendering of the lumbosacral spine and pel-
vis with sagittal cutting plane.
dic pelvic reconstructio n was considered but the surgical
risk taken into account, ureteral reimplantation was pre-
fered. The hydronephrosis improved and the right kidney
function improved. One and a half years later, however,
the patient suffered several febrile urinary tract infec-
tions due to post-voiding residual urine of up to 200 ml.
A CT scan showed further progression of the pelvic nar-
rowing, the space between the vertebral column and the
pubic bones being reduced to 8 mm (Figures 1 and 2).
Prophylactic antibiotic treatment was initiated and a
permanent suprapubic catheter was placed. It was later
replaced by a continent appendicovesicostomy (Mitrofa-
noff). During six months following the appendicovesi-
costomy, she had suffered a single urinary tract infec-
tion.
3. DISCUSSION
Pelvic deformities in osteogenesis imperfecta are most
likely a result of frequent fractures and remodeling of
bones. The most studied deformity is acetabular protru-
sion.
In a study comprising 76 individuals with OI, Violas
et al. [5] determined the incidence of acetabular protru-
sion in OI to 33 per cent. The most frequent complica-
tion was constipation.
Wenger et al reported on a 14 year old boy with severe
OI and severe intrapelvic acetabular protrusion produc-
ing a distal obstruction of the colon [4]. Lee et al. stud-
ied 43 patients with type III OI to determine the fre-
quency and severity of abdominal problems and the rela-
tionship between these problems and pelvic deformity.
The study concluded that chronic constipation and re-
current abdominal pain were more frequent in patients
who had acetabular protrusion than in those who did not
[6].
Reported renal complications of OI are nephrolithiasis
and nephrocalcinosis. These complications can be caused
by urinary tract obstruction, urinary stasis caused by
scoliosis [7] and hypercalciuria, the latter occurring in
one-third of OI patients [8]. Vetter et al. reported on 58
children with various forms of OI. Four of these patients
had kidney stones and renal papillary calcifications [9].
In 1995, Butani et al. described chronic renal failure at-
tributed to obstructive uropathy secondary to bony pel-
vic outlet deformities in a 16 year old boy with OI type
III. The authors concluded that the renal failure was
caused by the pelvic de f ormity [7].
The present case illustrates three types of complica-
tions attributable to pelvic narrowing in OI. Narrowing
of the pelvis is usually the result of acetabular protrusion,
and is found most frequently in OI type III, where it oc-
curs in up to two-thirds of the patients [5]. Our patient
had only minimal acetabular protrusion. Instead, the
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J. B. Granild-Jensen et al. / Open Journal of Pediatrics 1 (2011) 64-66 66
5. ACKNOWLEDGEMENTS
severe pelvic narrowing was a result of excessive lumbar
lordosis and a very short distance between the pubic arch
and the lumbar spine. To our knowledge this typ e of pel-
vic narrowing has not previously been described in pa-
tients with OI. As our patient was treated with bispho-
phonates for approximately 10 years it raises the ques-
tion whether this treatment protects from acetabular pro-
trusion, but predisposes for this form of pelvic narrow-
ing.
Y.F. Rawashdeh, M.D., Department of Urology, Aarhus University
Hospital, Skejby.
I. Hvid, M.D., P rof., Dr. Med., Department of Orthop aedic Surgery,
Aarhus University Hospital, Aarhus.
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faeculomas, deep veinous thrombosis and hydronephro-
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prove the reduced pelvic entry by perfoming a pelvic
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tions of pelvic narrowing were treated by less invasive
methods. The procedures employed were colostomy
after resection of the sigmoid colon and ureteral reim-
plantation. Abdominal pain and defaecation difficulty
improved significantly, as did the hydronephrosis and
since the colostomy was performed in May 2007, she
had had no vascular complications. Post-voiding residual
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This case illustrates the need to closely monitor OI pa-
tients for pelvic narrowing and for development of
faeculomas, deep veinous thrombosis and obstructive
nephropathy. It is recommended to prescribe opioid
treatment with great care and prophylactic laxatives
should be considered. If constipation develops it should
be treated promptly. It is advised to keep in mind that
pelvic narrowing is not necessarily a result of acetabular
protrusion and to note a possible correlation with bispho-
sphonate treatment.
[8] Chines, A., Petersen, D.J., Schranck, F.W., et al. (1991)
Hypercalciuria in children severely affected with
osteogenesis imperfecta. The Journal of Pediatrics, 119,
51-57. doi:10.1016/S0022-3476(05)81038-8
[9] Vetter, U., Maierhofer, B., Muller, M., et al. (1989)
Osteogenesis imperfecta in childhood: Cardiac and renal
manifestations. European Journal of Pediatrics, 149,
184-187. doi:10.1007/BF01958277