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1.  Alternative diagnoses with ectopia lentis 
Eye  2011;26(3):481.
doi:10.1038/eye.2011.306
PMCID: PMC3298985  PMID: 22134590
2.  Infantile scoliosis in Beals syndrome: the use of a non-fusion technique for surgical correction 
European Spine Journal  2005;15(4):433-439.
Beals syndrome (congenital contractural arachnodactyl) is a genetic disorder of the connective tissue phenotypically related to Marfan syndrome. It is characterised by dolichostenomelia, arachnodactyly, multiple joint contractures, crumpled ears, hypoplastic muscles and scoliosis. The latter, the most important clinical feature of this rare condition, presents in the infantile and juvenile age group and has a tendency to rapid progression. Bracing often fails to control the scoliosis and surgery is the recommended treatment. We present our experience of two cases managed with the paediatric Isola instrumentation and a non-fusion technique.
doi:10.1007/s00586-005-0980-9
PMCID: PMC3489316  PMID: 16172901
Beals syndrome; Congenital contractural arachnodactyly; Fibrillin; Progressive infantile scoliosis; Posterior spinal instrumentation without fusion
3.  Coexistence of social inequalities in undernutrition and obesity in preschool children: population based cross sectional study 
Archives of Disease in Childhood  2003;88(8):671-675.
Aims: To test for the coexistence of social inequalities in undernutrition and obesity in preschool children.
Methods: Retrospective, cross sectional, study of routinely collected data from 74 500 children aged 39–42 months in 1998/99. Main outcome measures were weight, height, sex, and age routinely recorded by health visitors. Body mass index (BMI) standardised for age and sex, relative to UK 1990 reference data, was used to define undernutrition (BMI <2nd centile) and obesity (BMI >95th centile; BMI >98th centile). Social deprivation was assessed as Carstairs deprivation category (1 = most affluent to 7 = most deprived).
Results: Both undernutrition (3.3%) and obesity (8.5% above 95th centile; 4.3% above 98th centile) significantly exceeded expected frequencies from UK 1990 reference data. Undernutrition and obesity were significantly more common in the more deprived families. Odds ratios in deprivation category 7 relative to category 1 were 1.51 (95% CI 1.22 to 1.87) for undernutrition (BMI <2nd centile) and 1.30 (95% CI 1.05 to 1.60) for obesity (BMI >98th centile). The cumulative prevalence of under and overnutrition (malnutrition) in the most deprived group was 9.5% compared to 6.9% in the least deprived group.
Conclusions: Undernutrition and obesity are significantly more common than expected in young children and strongly associated with social deprivation. Both undernutrition and obesity have adverse short and long term health effects. Public health strategies need to tackle malnutrition (both undernutrition and obesity) in children and take into consideration the association with social deprivation.
doi:10.1136/adc.88.8.671
PMCID: PMC1719615  PMID: 12876159
4.  The phenotype of normal tension glaucoma patients with and without OPA1 polymorphisms 
Aim: Polymorphisms in OPA1, the gene responsible for autosomal dominant optic atrophy, were recently found to be strongly associated with normal tension glaucoma (NTG). The aim of this study was to determine whether OPA1 polymorphisms affect the phenotype of NTG patients.
Methods: A retrospective analysis was performed of 108 well characterised NTG patients who had been genotyped for OPA1 variations, and who had previously undergone automated perimetry and Heidelberg retina tomography (HRT). 25 NTG patients had the at-risk OPA1 genotype (IVS 8 +4 C/T; +32 T/C) and 83 NTG patients did not. Differences between groups were sought in a wide range of structural, psychophysical, and demographic factors. These included sex, age at diagnosis, family history of glaucoma, history of ischaemic risk factors and vasospasm, laterality of glaucoma, presenting and highest diurnal intraocular pressure (IOP), initial cup-disc (CD) ratio, baseline visual field global indices, and optic disc parameters as measured by HRT. For a subgroup of patients with at least 5 years of follow up and 10 visual field tests, pointwise linear regression analysis (progressor for Windows software) was applied to the visual field series.
Results: There was no significant difference in the two groups with respect to sex, age at diagnosis, family history of glaucoma, history of ischaemic risk factors and vasospasm, or laterality of glaucoma. The comparison of IOP, CD ratio and visual field global indices, MD and CPSD in the two groups showed no significant difference. There were no differences in the mean values for any of the HRT parameters analysed. For the subgroup of patients with at least 5 years of follow up, there was also no significant difference in the number of patients with progressing locations, the mean number of progressing locations per subject, the mean slope of the progressing locations or the mean slope for whole visual field.
Conclusions: The absence of phenotypic differences in normal tension glaucoma patients with and without the OPA1 polymorphisms IVS 8 +4 C/T; +32 T/C suggest that these OPA1 polymorphisms do not underlie any major phenotypic diversity in these patients.
PMCID: PMC1771514  PMID: 12543739
phenotype; normal tension glaucoma; OPA1 polymorphisms
5.  Identification of FBN1 gene mutations in patients with ectopia lentis and marfanoid habitus 
The British Journal of Ophthalmology  2002;86(12):1359-1362.
Background: Marfan syndrome (MFS), inherited as an autosomal dominant trait, typically affects the cardiovascular, skeletal, and ocular systems. Ectopia lentis (EL) is a clinical manifestation of MFS, with stretching or disruption of the lenticular zonular filaments, leading to displacement of the lenses. EL, with or without minor skeletal changes, exists as an independent autosomal dominant phenotype linked to the same FBN1 locus.
Methods: A consecutive series of 11 patients, affected predominantly by EL, was analysed for FBN1 mutations using PCR, SSCA, and sequencing.
Results: Six mutations were identified, of which three are novel and one is recurrent in two patients, thus establishing a mutation incidence in this group of 7/11 (63%).
Conclusion: The FBN1 variants reported are clustered in the first 15 exons of the gene, while FBN1 mutations reported in the literature are distributed throughout the entire length of the gene. A different type of FBN1 mutation presents in this group of patients, compared with MFS, with arginine to cysteine substitutions appearing frequently.
PMCID: PMC1771443  PMID: 12446365
ectopia lentis; fibrillin-1; Marfan syndrome
6.  Understanding Marfan's syndrome. 
BMJ : British Medical Journal  1992;304(6819):121.
PMCID: PMC1880961  PMID: 1737128
7.  Linkage data for Marfan syndrome and markers on chromosomes 1 and 11. 
Journal of Medical Genetics  1990;27(2):82-85.
Six large families with classical Marfan syndrome were studied using markers on chromosomes 1 and 11. Two of three families tested showed negative scores using D1S7 but a third family gave a positive score (0.92) at theta = 0.1. The other chromosome 1 markers typed (MUCI, NGFB, D1S8) excluded close linkage. Negative lod scores with two chromosome 11q22 markers (D11S84, D11S148) excluded at least 20 cM in this area (Z = less than -2), which was chosen for study as two enzymes responsible for collagen degradation (collagenase and stromelysin) are localised to this region.
PMCID: PMC1016925  PMID: 1969489
8.  An exclusion map of Marfan syndrome. 
Journal of Medical Genetics  1990;27(2):73-77.
The combined genetic data between the Marfan syndrome and 75 informative loci on 18 autosomes were used to construct an exclusion map for this disorder. Data are also presented for a further two unmapped markers. The most likely location of the Marfan syndrome gene is highlighted and all the unexcluded areas of the genome are displayed in a graphical form. This exclusion map shows that almost 75% of the genome has been excluded as a likely location for the Marfan syndrome gene in the majority of the families studied. Apart from chromosomes 8, 13, 21, and 22, for which no data were available, other regions not excluded yet include 5p, 6p, 9p, 10p, 12p, 15, 17p, 18, and 20p. Future linkage analysis using markers located in the highlighted regions should facilitate the identification of the site of the Marfan syndrome gene.
PMCID: PMC1016923  PMID: 2319588
9.  Genetic evidence that mutations in the COL1A1, COL1A2, COL3A1, or COL5A2 collagen genes are not responsible for mitral valve prolapse. 
British Heart Journal  1989;61(3):292-299.
DNA markers were used to assess the segregation of genes encoding the collagen types that predominate in the mitral valve (types I, III, and V) in two family pedigrees that are phenotypically different but showed dominantly inherited mitral valve prolapse. The inheritance of these markers was compared with the segregation of the phenotype for mitral valve prolapse in both families. In one family it was shown that the COL1A1, COL1A2, COL3A1, and COL5A2 genes segregated independently of the phenotype; in the other family the results for COL1A1, COL1A2, and COL5A2 were similar but analysis at the COL3A1 locus was not possible. These data indicate that in these families mitral valve prolapse does not arise from a defect in one of these collagen genes.
PMCID: PMC1216661  PMID: 2930668
11.  Pulmonary disease in patients with Marfan syndrome. 
Thorax  1984;39(10):780-784.
Hospital case notes and chest radiographs of 100 patients with Marfan syndrome were investigated for evidence of pulmonary disease. The criteria for inclusion of details of a given patient in the study were the occurrence of Marfan abnormalities in at least two separate body systems (skeletal, cardiovascular, ocular) or in one body system where there was a family history of a classically affected first degree relative. Selection of cases was biased towards those with cardiorespiratory problems by virtue of the hospitals from which the patients were drawn. Forty eight patients underwent cardiac surgery. Eleven patients had a history of spontaneous pneumothorax, which had been recurrent in 10 cases and bilateral in six. Eight had had pneumonia or excessively frequent respiratory infections and two had bronchiectasis. Chest radiographs showed emphysematous bullae in five, upper lobe fibrosis in four, and aspergilloma in two. The cases reviewed together with other published evidence suggest that spontaneous pneumothorax and bullae are causally related to Marfan syndrome. The presence of idiopathic upper lobe fibrosis in four Marfan patients is interesting but provides insufficient evidence to assess possible causality.
PMCID: PMC459918  PMID: 6495247

Results 1-12 (12)