Osteogenesis imperfecta (OI), or brittle bone disease, is a heterogeneous disorder
characterised by bone fragility, multiple fractures, bone deformity, and short stature. OI is a …

Achondroplasia (MIM 100800) is the most common non-lethal skeletal dysplasia. Its
incidence is between one in 10 000 and one in 30 000. The phenotype is characterized by …

The most frequently asked questions that confront the fetal medicine trainee/expert on a
daily basis are “Is the finding real or merely an artifact?” and “Is the diagnosis correct?” …

Objective The purpose of this article was to review the published literature on 3‐dimensional
ultrasound (3DUS) and 4‐dimensional ultrasound (4DUS) in obstetrics and determine …

The application of segmentation methods to medical imaging has the potential to create
novel diagnostic support models. With respect to fetal ultrasound, the thoracic wall is a key …

A detailed comprehensive fetal ultrasound examination (76811) includes, in addition to all of
the components of a basic fetal ultrasound examination (76805), a detailed anatomic survey …

Objective To compare the diagnostic accuracy of two‐dimensional (2D) ultrasound and
three‐dimensional (3D) computed tomography (CT) for the diagnosis of fetal skeletal …

Fetal malformations are very frequent in industrialized countries. Although advanced
maternal age may affect pregnancy outcome adversely, 80%-90% of fetal malformations …

Spinal dysraphism or neural tube defects (NTD) encompass a heterogeneous group of
congenital spinal anomalies that result from the defective closure of the neural tube early in …

Craniosynostosis is defined as the process of premature fusion of one or more of the cranial
sutures. It is a common condition that occurs in about 1 to 2,000 live births. Craniosynostosis …