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Orthopaedic Proceedings
Vol. 93-B, Issue SUPP_II | Pages 108 - 108
1 May 2011
Engell V Hvid I Moller-Madsen B Davidsen M
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Osteogenesis imperfecta is a heterogeneous group of collagen type 1 defects. The resulting fragile bone with increased risk of fractures and deformity is the primary orthopaedic challenge. Surgical treatment is aimed at reducing the risk of fracture, correcting deformity and improving ambulatory status.

Management of the growing child with extensible intramedullary device was introduced in the 1960’s by Bailey and Dubow. Since then a number of different nails have been used. The current report presents our experience with the Fassier-Duval intramedullary nail in the first ten patients.

Materials and Method: The first ten children who had been operated between 2005 and 2008 with the Fassier-Duval (FD) nail were reviewed. The indication for surgery in all patients was to stabilise the long bones of the lower extremity to promote mobility. Correction of the axis of the long bones was obtained with wedged osteotomies. There where 7 girls and 3 boys.

Median follow-up was 2 years and 3 months (Range 1 – 4 years and 3 month).

Results: 22 FD nails were inserted in 13 operations in 10 children. 8 FD nails (4 operations) were primary FD nail insertions. The mean age at insertion was 2 years. 14 FD nails (9 operations) were exchanges of other devices. In this group the mean age at insertion of the FD nail was 6 years. In both groups mean admission was 4,5 days.

5 operations were reoperations due to complications. All of these were in femora. 5 patients had a fracture despite the nail. 3 were reoperated due to bending or perforation of the nail. 2 were treated conservatively. All 5 healed uneventfully. 1 patient was reoperated 3 times. First due to migration of the nail, secondly failure of the nail to elongate and thirdly because of a fracture with bending of the nail. There were no infections, neurological- or vascular damage.

At follow-up 6 patients were walking without any aid. 2 were mobilised with aids. 2 were mobilised in wheelchair.

No radiographic evidence of growth arrest has been noted secondary to the crossing of the epiphysealplate by the nails.

Discussion: Our result supports the reported benefits of extensible intramedullary device in children suffering from osteogenesis imperfecta. Minimizing the crippeling effects of OI is aimed at reducing the risk of fracture, correcting deformity and improving ambulatory status. There are also complications with the Fassier-Duval nail. However these are less than reported with other extensible intramedullary nails. Indeed one could in some cases argue that a bended nail or a fracture after nail insertion is a consequence of the better mobility on the way to a better quality of life.


Orthopaedic Proceedings
Vol. 91-B, Issue SUPP_I | Pages 70 - 70
1 Mar 2009
Damborg F Engell V Andersen M Kyvik K Thomsen K
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In the litterature patients suffering Mb. Scheuermann (MS) have been reported to experience more back pain and other back related constrains compared to subjects matched for age and sex. We have been unable to find publications on health-related quality of life by SF-12 or SF-36 in MS. The aim of the present study was to compare health-related quality of life status in MS to the background population.

Materials and Methods: The present cohorts are derived from The Danish Twin Registry and consist of all Danish twins born from 1931 through 1982. This twin cohort has been shown to very closely resemble the general Danish population. A total of 46,418 twins received and 75% returned a questionnaire of which 34,007(97.3 %) answered the question ‘Have you been diagnosed with Scheuermann’s disease?’ Included in the questionnaire were the standardised questions for The Medical Outcome Study Short Form-12 (SF-12), from which we calculated the SF-12 Physical Component Summary scale (SF-12 PCS) and the SF-12 Mental Component Summary scale (SF-12 MCS) using the SF Health Outcomes Scoring Software. Nine-hundred-and-forty-three reported to have MS and the remaining 33,064 responders were used as controls.

Results: The mean(SD) age in the MS group was 43.7(11.9) years compared to 44.4(13.7) in the control group (NS). The overall self-reported prevalence of MS was 2.8% (95% c.i.l. 2.6–3.0), male : female prevalence was 3.6% (95% c.i.l. 3.2–4.1) : 2.1% (95% c.i.l. 1.9–2.3). In the controls male : female prevalence was 45.2% (n=14,953) : 54.8% (n=18,111).

Conclusion: The perceived health status from SF-12 PCS in self-reported MS was moderately though highly significantly worse than in controls in a big cohort of Danish twins. There was no difference in SF-12 MCS between the two groups.


Orthopaedic Proceedings
Vol. 91-B, Issue SUPP_I | Pages 56 - 56
1 Mar 2009
Engell V Damborg F Andersen M Kyvik K Thomsen K
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Introduction: Clubfoot – Congenital talipes equinovarus (CTEV) – is one of the most common congenital conditions requiring orthopaedic surgery. However little is known about the impact on health-related quality of life in these patients. A score on physical- and mental-health is used for this purpose.

The aim of the present study was to compare health-related quality of life in CTEV to a background population.

Materials and Methods: The Odense based Danish Twin Registry (DTR) is unique as it contains data on all 73,000 twin pairs born in Denmark over the last 130 years. All 46,418 twins born from 1931 through 1982 received an Omnibus questionnaire in the spring of 2002. The incidence of CTEV was self-reported. Included in the questionnaire were questions for The Medical Outcome Study Short Form-12 (SF-12). We calculated SF-12 Physical Component Summary scale (SF-12 PCS) and SF-12 Mental Component Summary scale (SF-12 MCS) using the SF Health Outcomes Scoring Software.

80 reported to have CTEV and the remaining 29,516 were used as controls.

Results: 46,418 twins received and 34,944 (75%) returned the questionnaire. 34,485 (99% of the responders) answered the question ‘Were you born with club-foot?’ The sex distribution in these was 15,731 (46%) males and 18,754 (54%) females.

The self-reported prevalence of CTEV was 0.0027 (95% confidence interval 0.0022–0.0034).

80 reported to have CTEV and the remaining 29,516 were used as controls.

In the CTEV group SF-12 PCSmean was 50.18 (SD 11.19) vs 53.09 (SD 8.11) in the controls.

p< 0.0007.

In the CTEV group SF-12 MCSmean was 50.58 (SD 10.52) vs 51.78 (SD 8.47) in the controls.

NS.

Conclusion: The impact of congenital clubfoot on health-related quality of life was significant only on the physical scale. The clubfoot patients scoring lower than the controls. There was no difference in the mental scale between the two groups.


The Journal of Bone & Joint Surgery British Volume
Vol. 88-B, Issue 3 | Pages 374 - 376
1 Mar 2006
Engell V Damborg F Andersen M Kyvik KO Thomsen K

The aetiology of congenital club foot is unclear. Although studies on populations, families and twins suggest a genetic component, the mode of inheritance does not comply with distinctive patterns.

The Odense-based Danish Twin Registry contains data on all 73 000 twin pairs born in Denmark over the last 130 years. In 2002 all 46 418 twins born between 1931 and 1982 received a 17-page questionnaire, one question of which was ‘Were you born with club foot?’ A total of 94 twins answered ‘Yes’, giving an overall self-reported prevalence of congenital club foot of 0.0027 (95% confidence interval (CI) 0.0022 to 0.0034). We identified 55 complete twin pairs, representing 12 monozygotic, 22 dizygotic same sex (DZss), 18 dizygotic other sex (DZos) and three unclassified. Two monozygotic and 2 DZss pairs were concordant. The pairwise concordance was 0.17 (95% CI 0.02 to 0.48) for monozygotic, 0.09 (95% CI 0.01 to 0.32) for DZss and 0.05 (95% CI 0.006 to 0.18) for all dizygotic (DZtot) twins.

We have found evidence of a genetic component in congenital club foot, although non-genetic factors must play a predominant role.