Craniosynostosis
Abstract The fetal cranium is composed of bony plates that are joined together by areas of dense fibrous tissue termed cranial sutures (sagittal, coronal, lambdoid, and metopic). Usually, these sutures…
Caudal Regression Syndrome
Abstract Caudal regression syndrome (CRS), also known as caudal regression sequence, caudal dysplasia, caudal apalasia, femoral hypoplasia, phocomelic diabetic embryopathy, or sacral agenesis, is a spectrum of anomalies involving the…
Spinal Abnormalities and Klippel-Feil Syndrome
Abstract Spinal malformations associated with vertebral segmentation defects and progressive fusions are seen in numerous disorders, particularly those associated with skeletal disorders. Among spinal malformations, one of the best-described constellation…
Abnormal Hands: Focus on the Thumbs
Abstract Anomalies of the hands are often difficult to precisely diagnose. Hand malformations range from subtle deformities such as isolated fifth finger clinodactyly to abnormalities of each phalange, including the…
Acrofacial Dysostosis
Abstract Facial dysotosis can be divided into two types: mandibulofacial dysostoses (MFDs) and acrofacial dysostoses (AFDs). MFDs typically have no limbs defects, while AFDs are associated with limb abnormalities. Treacher…
Other Type II Collagen Disorders
Abstract The type II collagen disorders are a phenotypic spectrum of diseases that include achondrogenesis II, hypochondrogenesis, platyspondylic Torrance type, spondyloepiphyseal dysplasia congenita, Kniest dysplasia, spondyloepimetaphyseal dysplasia, Strudwick type, Legg-Calve-Perthes…
Spondyloepiphyseal Dysplasia Congenita
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…
Choroid Plexus Anomalies: Cysts and Papillomas
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…
Fetal Spleen
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…
Sacrococcygeal Teratoma and Fetus in Fetu
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…
