Abstract Campomelic dysplasia (CD) is skeletal dysplasia associated with abnormal facies and multiple congenital anomalies, with characteristic skeletal anomalies. Newborns with CD often die due to respiratory insufficiency and congenital…
Abstract Atelosteogenesis (AO) types I, II, and II are a group of usually lethal short-limb skeletal dysplasias. They are characterized by an abnormal, characteristic faces and hypoplastic or very shortened…
Abstract All women should be offered prenatal screening or diagnostic testing for aneuploidy, regardless of maternal age, but with the increasing number of prenatal screening options now available, deciding which…
Abstract Pregnancy is an inefficient process. A large proportion of early pregnancies end in miscarriage or early pregnancy failure. Ectopic pregnancies, those located outside of the proper uterine location, cause…
Keywords osteochondrodysplasias, skeletal dysplasias The skeletal dysplasias or osteochondrodysplasias are a heritable group of more than 450 disorders that affect primarily bone and cartilage, but can also have significant…
Abstract Holoprosencephaly (HPE) is a heterogeneous central nervous system (CNS) anomaly that results from a primary defect in induction and patterning of the rostral neural tube (basal forebrain), leading to…
Abstract Dilatation of the lateral ventricles of 10 mm or more is the most frequent sign of possible abnormality detected on antenatal ultrasound. It is not a disease but rather…
Abstract Cortical neuronal cell development starts at about 7 weeks’ gestation from stem cells in the germinal matrix that line the ventricles. The stem cells proliferate and differentiate into glial…
Abstract Destructive cerebral lesions are the result of an insult to a normally developed fetal brain. The most common causes are hemorrhage, hypoxia-ischemia, and infections. However, the pathophysiology is unclear…
Abstract Septooptic dysplasia (SOD) is a rare heterogeneous disorder characterized by optic nerve hypoplasia, midline forebrain abnormalities such as agenesis of the corpus callosum and absence of the cavum septi…
