Abstract Spondyloepiphyseal dysplasia congenita (SEDC) is the most common of the spondyloepiphyseal dysplasia and often presents in the prenatal period. SEDC is an autosomal dominant disorder that results from mutations…
Abstract The choroid plexus is a vascular convolute consisting of epithelial cells (microglia), fenestrated blood vessels, and stroma within the ventricular system of the brain. It is the main source…
Abstract The fetal spleen is an important center of hematopoiesis until the late fetal period. The fetal spleen is usually not seen on ultrasound (US) before 18 weeks. Normal values…
Abstract Sacrococcygeal teratoma (SCT) is the most common tumor in newborns. Predominantly cystic tumors do not compromise intrauterine development, even when the diagnosis is made in the second trimester. The…
Abstract The short-rib polydactyly syndromes (SRPS) are a group of autosomal recessively inherited skeletal disorders termed skeletal ciliopathies . Ultrasound abnormalities include small, long, narrow chests; shortened appendicular long bones;…
Abstract Russell-Silver syndrome (RSS), or Silver-Russell syndrome, is one of the growth deficiency disorders that is now part of an increasing group of congenital imprinting disorders. RSS is characterized by…
Abstract Osteogenesis imperfecta (OI) is a disorder of bone characterized by hypomineralization of the skeleton and by life-long bone fragility and fracture predisposition. OI is marked by considerable clinical and…
Abstract Radial ray defects comprise a large group of upper limb anomalies, ranging from partial (radial hypoplasia) to a complete (radial aplasia) deficiency of the radius with or without accompanying…
Abstract Anomalies of the corpus callosum (ACC) and septum pellucidum are disorders of prosencephalic midline development, which are often associated with other brain abnormalities or may be part of a…
Abstract Hypophosphatasia (HPP) results from mutations in the gene that encodes tissue nonspecific alkaline phosphatase ( TNSALP ). It can be inherited as both an autosomal recessive (AR) and autosomal…
