Introduction Klippel-Trénaunay-Weber syndrome (KTWS) is characterized by a triad of cutaneous hemangiomas, hemihypertrophy, and vascular abnormalities. This triad of anomalies was first described by Klippel and Trénaunay in 1900. Parkes-Weber described an additional case 18 years later that had the…
Introduction In 1952, Dr. Maurice Goldenhar described a variant of hemifacial microsomia. Although Goldenhar syndrome is frequently listed as synonymous with hemifacial microsomia, it is distinct. Also known as ocular-auriculo-vertebral syndrome, Goldenhar syndrome is a defect in the development of…
Introduction First described in 1979, Fryns syndrome is a rare autosomal recessive disorder characterized by diaphragmatic defects, dysmorphic facial features, distal limb hypoplasia, pulmonary hypoplasia, and associated anomalies of other major organ systems. To date the diagnosis is made solely…
Introduction Fraser syndrome is a rare congenital malformation syndrome characterized by cryptophthalmos, syndactyly, and urogenital defects. Disease Definition Thomas et al. formulated the diagnostic criteria for Fraser syndrome including four major (cryptophthalmos, syndactyly, abnormal genitalia, and affected sibling) and eight minor…
Introduction Cornelia de Lange syndrome (CdLS), also known as Brachmann-de Lange or de Lange syndrome, is a condition characterized by mental retardation, craniofacial dysmorphism, prenatal and postnatal growth failure, hirsutism, and upper limb abnormalities. Other defects occasionally associated with CdLS…
Introduction CHARGE ( c oloboma, h eart disease, choanal a tresia, r etardation, g enital hypoplasia, and e ar anomalies) syndrome is an autosomal dominant disorder that was first described as a recognizable pattern of congenital malformations by Hall in…
Introduction The biophysical profile (BPP) was first described in 1980 as a method to quantify and standardize antepartum fetal evaluation. The full BPP test is performed using a combination of real-time ultrasound (US) and cardiotocography, also known as a nonstress…
Introduction Preterm birth (PTB) touches communities everywhere. Around the world, one in 10 babies is born too early. The toll is more than 15,000,000 babies per year. The deep impact of this problem has fostered widespread efforts to use the…
Introduction The fetal-maternal interface in pregnancy does not act as a barrier to the passage of fetal cells into the maternal circulation, and the passage of fetal deoxyribonucleic acid into the maternal compartment is one proposed mechanism for preventing immunologic…
Introduction Nonimmune hydrops fetalis (NIHF) was first explained by Potter, who described fetal hydrops in the nonanemic fetuses of Rh-positive women. With the advent of anti-D immunoglobulin and the decreased incidence of immune-mediated hydrops, NIHF now comprises 90% of all…