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Descriptive epidemiology of idiopathic clubfoot.

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Clubfoot is a common structural malformation, occurring in approximately 1/1,000 live births. Previous studies of sociodemographic and pregnancy-related risk factors have been inconsistent, with the exception of the strong male preponderance and association with primiparity. Hypotheses for clubfoot

A prospective study of the risk of congenital defects associated with maternal obesity and diabetes mellitus.

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This study was designed to evaluate the effects of maternal obesity and diabetes mellitus on the risk of nonchromosomal congenital defects. We used data from 22,951 pregnant women enrolled in a prospective cohort study of early prenatal exposures and pregnancy outcome. The relative risks [prevalence

Case report: prenatal diagnosis of diastrophic dysplasia by ultrasound at 21 weeks of gestation in a mother with massive obesity.

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Routine prenatal ultrasound of a massively obese mother at 21 weeks of gestation revealed short-limb dwarfism in the fetus. The proportionate shortening of tubular bones of about 50 per cent of the normal length, the absence of thoracic dysplasia, and a normal head circumference narrowed the

Clubfoot Etiology: A Meta-Analysis and Systematic Review of Observational and Randomized Trials.

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BACKGROUND Clubfoot is a common congenital anomaly with multiple potential risk factors. Identification of modifiable risk factors may minimize future incidence of clubfoot. The aim of this meta-analysis was to systematically review and analyze the best clinical evidence regarding risk factors

Maternal obesity and morbid obesity: the risk for birth defects in the offspring.

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BACKGROUND The objective of this study was to assess, in a large data set from Swedish Medical Health Registries, whether maternal obesity and maternal morbid obesity were associated with an increased risk for various structural birth defects. METHODS The study population consisted of 1,049,582

Body mass index and birth defects: Texas, 2005-2008.

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Texas ranks 12th nationally in the proportion of adult residents who are obese; approximately 67 % of Texans are overweight or obese. Studies indicate that obesity is related to an increased risk for birth defects; however, small sample sizes have limited the scope of birth defects investigated, and

High incidence of hip dysplasia but not slipped capital femoral epiphysis in patients with Prader-Willi syndrome.

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Prader-Willi syndrome (PWS) is characterized by hypotonia, obesity, hypogonadism, small hands and feet, and mental deficiency. Obesity and hypogonadism are also frequently associated with slipped capital femoral epiphysis (SCFE), suggesting that children with PWS might be at increased risk of

Characterization of a de novo unbalanced translocation t(14q18q) using microdissection and fluorescence in situ hybridization.

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We report on a patient with a de novo translocation between the long arms of chromosomes 14 and 18. The translocation was studied using microdissection in combination with fluorescence in situ hybridization (micro-FISH). Five copies of the chromosomes involved in the translocation were isolated by

Walking ability in patients with diastrophic dysplasia: a clinical, electroneurophysiological, treadmill, and MRI analysis.

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Patients with diastrophic dysplasia have walking difficulties of obscure etiology; some are even wheelchair-bound. To explore the problem, physical examination, treadmill, magnetic resonance imaging (MRI), and electroneurophysiologic studies were performed on 87 patients (56 females, 31 males) with

Trends in congenital anomalies in Europe from 1980 to 2012.

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Surveillance of congenital anomalies is important to identify potential teratogens. This study analysed the prevalence of 61 congenital anomaly subgroups (excluding chromosomal) in 25 population-based EUROCAT registries (1980-2012). Live births, fetal deaths and terminations of pregnancy for fetal

Analysis of an interstitial deletion in a patient with Kallmann syndrome, X-linked ichthyosis and mental retardation.

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Contiguous gene syndromes are an interesting clinical phenomenon, resulting from interstitial or terminal deletions of several adjacent genes. The phenotype results in a combination of two or more monogenic disorders and relates clinical findings to corresponding genotypes. We present the case of a

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