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Full-Text Articles in Medical Sciences
Xenobiotic Metabolism Genes And Clubfoot, Amy M. Sommer
Xenobiotic Metabolism Genes And Clubfoot, Amy M. Sommer
Dissertations & Theses (Open Access)
Idiopathic or isolated clubfoot is a common orthopedic birth defect that affects approximately 135,000 children worldwide. It is characterized by equinus, varus and adductus deformities of the ankle and foot. Correction of clubfoot involves months of serial manipulations, castings and bracing, with surgical correction needed in forty percent of cases. Multifactorial etiology has been suggested in numerous studies with both environmental and genetic factors playing an etiologic role. Maternal smoking during pregnancy is the only common environmental factor that has consistently been shown to increase the risk for clubfoot. Moreover, a positive family history of clubfoot and maternal smoking increases …
An Assessment Of Obesity And Hyperphagia In Individuals With Smith-Magenis Syndrome, Carrie A. Crain
An Assessment Of Obesity And Hyperphagia In Individuals With Smith-Magenis Syndrome, Carrie A. Crain
Dissertations & Theses (Open Access)
Smith-Magenis syndrome (SMS;OMIM# 182290) is a multiple congenital anomalies and mental retardation syndrome caused by a 3.7- Mb deletion on chromosome 17p11.2 or a mutation in the RAI1 gene. Although the majority of the SMS phenotype has been well described, limited studies are available describing growth patterns in SMS. There is some evidence that individuals with SMS develop obesity. Thus, this study aims to characterize the growth and potential influence of hyperphagia in a cohort of individuals with SMS. A retrospective chart review was conducted of 78 individuals with SMS through Baylor College of Medicine (BCM) at Texas Children¡¯s Hospital …