4 结果
Carpenter syndrome (Acrocephalopolysyndactyly type 2, OMIM 201000) is a rarely seen autosomal recessive disorder. In addition to abnormalities such as acrocephaly, craniosynostosis, facial asymmetry, polydactyly and syndactyly, obesity, hypogonadism, mental retardation, and corneal opacity, it may
OBJECTIVE
The purpose of this study was to compare the prenatal detection of four congenital heart defects (CHDs) and the image quality of five corresponding ultrasound planes among obese, overweight and normal-weight women.
METHODS
This was a retrospective cohort study of 54,846 pregnancies
BACKGROUND
High BMI is a risk factor for cardiovascular disease and, in contrast, low BMI is associated with worse prognosis in heart failure. The knowledge on BMI and the distribution in different BMI-classes in adults with congenital heart disease (CHD) are limited.
RESULTS
Data on 2424 adult
BACKGROUND
The Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive multiple congenital anomaly/mental retardation syndrome caused by a defect in cholesterol synthesis. Affected individuals have dysmorphism, short stature, failure to thrive, microcephaly, multiple congenital malformations,