This policy statement discusses clinical guidelines for screening of fetuses suspected of manifesting a skeletal dysplasia or for pregnancies at-risk. Historically, in-utero radiographs of a fetus ...

81 Collagen mutations also have been linked to congenital spondyloepiphyseal dysplasia (MIM: 183900), characterised by the presence of abnormal epiphyses, short stature, myopia and in some cases ...

Introduction: For decades, conventional karyotyping analysis has been the gold standard for detecting chromosomal abnormalities during prenatal diagnosis. With the development of molecular cytogenetic ...

Adenomatous polyps typically do not cause symptoms unless they progress to colon cancer. Even then, there may be no sign of a problem until the malignancy is advanced. This is why colon cancer ...