Causes of death in osteogenesis imperfecta.

McAllion, Susan J.; Paterson, C. R.

doi:10.1136/jcp.49.8.627

Cited by 153 publications

(113 citation statements)

References 14 publications

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“…In addition, no statistically significant difference was noted between the presence of symptoms to age, sex, occipitalization, and the number of fused segments (P > 0.05). [11,12,30,39,50]. Although various plain radiographic diagnostic methods have been proposed in assessing SOM [6,7,16,31,33,40,41,55], McGregor's line has been noted to be a sensitive and reliable marker for evaluating SOM [31,42].…”

Section: Resultsmentioning

confidence: 99%

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Superior odontoid migration in the Klippel–Feil patient

Samartzis

Kalluri²,

Herman

et al. 2006

Eur Spine J

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Klippel-Feil syndrome (KFS) is an uncommon condition noted primarily as congenital fusion of two or more cervical vertebrae. Superior odontoid migration (SOM) has been noted in various skeletal deformities and entails an upward/vertical migration of the odontoid process into the foramen magnum with depression of the cranium. Excessive SOM could potentially threaten neurologic integrity. Risk factors associated with the amount of SOM in the KFS patient are based on conjecture and have not been addressed in the literature. Therefore, this study evaluated the presence and extent of SOM and the various risk factors and clinical manifestations associated therein in patients with KFS. Twenty-seven KFS patients with no prior history of surgical intervention of the cervical spine were included for a prospective radiographic and retrospective clinical review. Radiographically, McGregor's line was utilized to evaluate the degree of SOM. Anterior and posterior atlantodens intervals (AADI/PADI), number of fused segments (C1-T1), presence of occipitalization, classification-type, and lateral and coronal cervical alignments were also evaluated. Clinically, patient demographics and presence of cervical symptoms were assessed. Radiographic and clinical evaluations were conducted by two independent blinded observers. There were 8 males and 19 females with a mean age of 13.5 years at the time of radiographic and clinical assessment. An overall mean SOM of 5.0 mm (range = -1.0 to 19.0 mm) was noted. C2-C3 (74.1%) was the most commonly fused segment. A statistically significant difference was not found between the amount of SOM to age, sex-type, classification-type, AADI, PADI, and lateral cervical alignment (P > 0.05). A statistically significant greater amount of SOM was found as the number of fused segments increased (r = 0.589; P = 0.001) and if such levels included occipitalization (r = 0.616; P = 0.001). A statistically significant greater amount of SOM was also found with an increase in coronal cervical alignment (r = 0.413; P = 0.036). Linear regression modeling further supported these findings as the strongest predictive variables contributing to an increase in SOM. A 7.20 crude relative risk (RR) ratio [95% confidence interval (CI) = 1.05-49.18; risk differences (RD) = 0.52] was noted in contributing to a SOM greater than 4.5 mm if four or more segments were fused. Adjusting for coronal cervical alignment greater than 10°, five or more fused segments were found to significantly increase the RR of a SOM greater than 4.5 mm (RR = 4.54; 95% CI = 1.07-19.50; RD = 0.48). The RR of a SOM greater than 4.5 mm was more pronounced in females -006-0280-z (RR = 1.68; 95% CI = 0.45-6.25; RD = 0.17) than in males. Eight patients (29.6%) were symptomatic, of which symptoms in two of these patients stemmed from a traumatic event. However, a statistically significant difference was not found between the presence of symptoms to the amount of SOM and other exploratory variables (P > 0.05). A mean SOM of 5.0 mm was found in our ...

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Section: Resultsmentioning

confidence: 99%

“…Excessive SOM could increase the threat of neurologic compromise and potentially death [11,12,30,39,50]. SOM has been associated with various disorders, such as rheumatoid arthritis [13,17,35,42,48], Down's syndrome [34,52], osteogenesis imperfecta [30,47], and Klippel-Feil syndrome (KFS) [1,10,18].…”

Section: Introductionmentioning

confidence: 99%

Superior odontoid migration in the Klippel–Feil patient

Samartzis

Kalluri²,

Herman

et al. 2006

Eur Spine J

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“…20,21 The malformed clivus and/or translocated odontoid peg impinges on the anterior craniospinal neuroaxis and causes neurologic symptoms, including upper motor neuron deficits, cranial nerve abnormalities, hydrocephalus, cerebellar dysfunction, syringomyelia, and even sudden death. [22][23][24] One of the patients with basilar invagination had Chiari type I malformation with syringomyelia and developed neurologic symptoms. Symptomatic patients will require surgical procedures for relief of symptoms because the ability to reduce basilar invagination is age-related.…”

Section: (ϫ35)mentioning

confidence: 99%

Abnormal Basiocciput Development in CHARGE Syndrome

Fujita¹,

Aida²,

Asakura³

et al. 2008

AJNR Am J Neuroradiol

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BACKGROUND AND PURPOSE:The causative gene of the common congenital malformation referred to as CHARGE syndrome is CHD7. Affected individuals often undergo head and neck imaging to assess abnormalities of the olfactory structures, hypothalamus-pituitary axis, and inner ear. We encountered a few children with severe hypoplasia of the basiocciput during a radiologic assessment of patients with CHARGE syndrome. To our knowledge, this anomaly has not been reported. Our purpose was to evaluate the incidence and severity of this anomaly in this syndrome.

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“…Type II is typically lethal in the perinatal period. OI Type III OI is associated with major bone deformities secondary to bone fractures after minor trauma and with serious respiratory problems that may lead them to death [9]. OI Type IV is the second mildest form with affected patients usually demonstrating mild to moderate deformities [1,2].…”

Section: Discussionmentioning

confidence: 99%

Intracranial meningioma in a patient with osteogenesis imperfecta

et al. 2008

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AbstractOsteogenesis imperfecta (OI) is a heritable disorder characterized mainly by connective tissue manifestations. In dinstinct cases, several neurological features have also been described. A 46-year-old male with a known family history of OI type I presented with progressive gait disturbances and diminished muscle strength. Brain MRI scans revealed an infiltrative intracranial mass occupying both frontoparietal lobes. The patient underwent surgical intervention. The histological diagnosis was an atypical (Grade II) meningioma. The bony parts demonstrated a mixture of osseous defects due to OI and infiltration by the tumor. At one-year follow up the patient′s muscle power partially returned while repeat MRI scans were negative for tumor recurrence.

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Causes of death in osteogenesis imperfecta.

Abstract: Aims-To determine the causes of death in patients with osteogenesis imperfecta, excluding infants with the perinatal lethal form (type II).

Cited by 153 publications

References 14 publications

Superior odontoid migration in the Klippel–Feil patient

Superior odontoid migration in the Klippel–Feil patient

Abnormal Basiocciput Development in CHARGE Syndrome

Intracranial meningioma in a patient with osteogenesis imperfecta

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