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…
Short Rib Thoracic Dysplasia With or Without Polydactyly
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;…
Russell-Silver Syndrome
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…
Osteogenesis Imperfecta
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…
Radial Ray Deficiency
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…
Corpus Callosum and Septum Pellucidum Anomalies
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…
Hypophosphatasia
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…
FGFR3 Disorders: Thanatophoric Dysplasia, Achondroplasia, and Hypochondroplasia
Abstract Fibroblast growth factor receptor 3 (FGFR3) disorders are a group of disorders that include thanatophoric dysplasia, achondroplasia, and hypochondroplasia. Achondroplasia is the most frequent cause of nonlethal dwarfism and…
DTDST Dysplasia (Including AOII and Achondrogenesis IB)
Abstract Diastrophic dysplasia (DTD) is an autosomal, recessively inherited skeletal dysplasia characterized by short limbs, normal-sized skull, cleft palate in one third of patients, characteristic swelling of the pinnae cartilage,…
