Introduction Neu-Laxova syndrome (NLS) is an autosomal recessive, lethal disorder. The syndrome was first described in 1971 by Neu et al. who reported three siblings who were either stillborn or died shortly after birth with microcephaly and multiple congenital anomalies. In…
Introduction Meckel-Gruber syndrome, also known as Meckel syndrome or Gruber syndrome, is a severe ciliopathy. This developmental disorder was first described by Meckel in 1822 and later by Gruber in 1934. The minimum diagnostic criteria are controversial because the clinical…
Introduction Holt-Oram, also known as hand-heart syndrome I, was first described in 1960 by Mary Clayton Holt and Samuel Oram as a constellation of malformations that they observed in four generations of one family. The original description included atrial septal…
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…