Significant ophthalmoarthropathy associated with ectodermal dysplasia in a child with Marshall-Stickler overlap: a case report

© 2008 Al Kaissi et al; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution Licens

Osteochondritis dissecans and Osgood Schlatter disease in a family with Stickler syndrome

<p>Abstract</p> <p>Purpose</p> <p>Stickler syndrome is among the most common autosomal dominant connective tissue disorders but is often unrecognised and therefore not diagnosed by clinicians. Despite much speculation, the cause of osteochondrosis in general and osteochondritis dissecans (OCD) and Osgood Schlatter syndrome (OSS) in particular remain unclear. Etiological understanding is essential. We describe a pair of family subjects presented with OCD and OSS as a symptom complex rather than a diagnosis.</p> <p>Methods</p> <p>Detailed clinical and radiographic examinations were undertaken with emphasis on the role of MRI imaging. Magnetic resonance imaging may allow early prediction of articular lesion healing potential in patients with Stickler syndrome.</p> <p>Results</p> <p>The phenotype of Stickler syndrome can be diverse and therefore misleading. The expectation that the full clinical criteria of any given genetic disorder such as Stickler syndrome will always be present can easily lead to an underestimation of these serious inheritable disorders. We report here two family subjects, a male proband and his aunt (paternal sister), both presented with the major features of Stickler syndrome. Tall stature with marfanoid habitus, astigmatism/congenital vitreous abnormality and submucus cleft palate/cleft uvula, and enlarged painful joints with early onset osteoarthritis. Osteochondritis dissecans (OCD) and Osgood Schlatter syndrome (OSS) were the predominating joint abnormalities.</p> <p>Conclusion</p> <p>We observed that the nature of the articular and physeal abnormalities was consistent with a localised manifestation of a more generalised epiphyseal dysplasia affecting the weight-bearing joints. In these two patients, OCD and OSS appeared to be the predominant pathologic musculoskeletal consequences of an underlying Stickler's syndrome. It is empirical to consider generalised epiphyseal dysplasia as a major underlying causation that might drastically affect the weight-bearing joints.</p

Maternal smoking in pregnancy is associated with cholesterol development in the offspring: A 27-years follow-up study

Objective: To examine the associations of maternal smoking in pregnancy with development of cholesterol levels from childhood to adulthood. Methods: Total cholesterol, high-density lipoprotein (HDL) cholesterol and low-density lipoprotein (LDL) cholesterol were measured annually from 1975 to 1993 and in 2002 in 350 subjects aged 5-19 years at baseline who participate in a prospective cohort study. Pregnancy and birth data were obtained through questionnaires sent to the parents. Results: Children of mothers who smoked in pregnancy showed a higher annual change in total cholesterol of 0.12 mmol/l per 10 years (95% confidence interval (CI): 0, 0.23) compared to children whose mothers did not smoke in pregnancy. Larger effect estimates were found in children with moderate overweight (0.39 mmol/l per 10 years (95% CI: 0.14, 0.63). HDL-cholesterol and LDL-cholesterol showed tendencies towards a decrease and increase, respectively, in children of mothers who smoked in pregnancy compared to children whose mothers did not smoke in pregnancy. Adjustment for potential confounders did not materially change the effect estimates. Conclusion: This study suggests for the first time that maternal smoking in pregnancy is associated with an increased rise in total cholesterol levels and a tendency towards an adverse lipoprotein profile in the offspring. (C) 2007 Elsevier Ireland Ltd. All rights reserved

Accuracy of a screening instrument to identify potential child abuse in emergency departments

Although screening for child abuse at emergency departments (EDs) increases the detection rate of potential child abuse, an accurate instrument is lacking. This study was designed to measure the accuracy of a screening instrument for detection of potential child abuse used in EDs. In a prospective cohort study at three Dutch EDs, a 6-item screening instrument for child abuse, Escape, was completed for each child visiting the ED. The data from the completed Escape instrument was used to calculate sensitivity, specificity, and the positive/negative predictive value per item. The clinical notes and conclusions of the screen instruments of all potentially abused children reported to the hospitals' Child Abuse Teams were collected and reviewed by an expert panel. A logistic regression model was used to evaluate the predictors of potential abuse. Completed Escape instruments were available for 18,275 ED visits. Forty-four of the 420 children with a positive screening result, and 11 of the 17,855 children with a negative result Were identified as potentially abused. Sensitivity of the Escape instrument was 0.80 and specificity was 0.98. Univariate logistic regression showed that potentially abused children were significantly more likely to have had an aberrant answer to at least one of the items, OR = 189.8, 95% CI [97.3, 370.4]. Most of the children at high risk for child abuse were detected through screening. The Escape instrument is a useful tool for ED staff to support the identification of those at high risk for child abuse. (C) 2013 The Authors. Published by Elsevier Ltd. All rights reserved