Abstract Neu-Laxova syndrome (NLS) is a rare autosomal recessive, lethal disorder. There are no formal diagnostic criteria for NLS. The most commonly described characteristics are intrauterine growth restriction, microcephaly, dysmorphic…
Abstract Multifetal reduction is the termination of one or more fetuses in a multifetal pregnancy to decrease the likelihood of maternal and fetal morbidity and mortality. Before the procedure, an…
Abstract Meckel-Gruber syndrome is a severe ciliopathy first described in 1822. The worldwide incidence ranges from 1 : 1300 in Gujarati Indians to 1 : 140,000 in England. Twelve genetic mutations are associated with…
Abstract Holt-Oram syndrome, also known as hand-heart syndrome, is classically described to have upper limb anomalies affecting the thumb and heart, mostly septal defects. The syndrome may occur sporadically but…
Abstract Klippel-Trénaunay-Weber syndrome (KTWS) is characterized by a triad of cutaneous hemangiomas, hemihypertrophy, and vascular abnormalities. The prevalence of KTWS is 1 : 100,000. The exact pathophysiology and genetic etiology of the…
Abstract The primary characteristic of Goldenhar is hemifacial macrosomia/facial asymmetry. The syndrome is likely sporadic, although more recently genetic loci and teratogenic exposures have been reported as likely etiologies. It…
Abstract Fraser syndrome is a rare congenital malformation syndrome characterized by cryptophthalmos, syndactyly, and urogenital defect. It has been proposed that diagnosis be based on two major and one minor…
Abstract Cornelia de Lange syndrome (CdLS) should be considered in any fetus with growth restriction in addition to limb or craniofacial abnormalities, with or without a congenital heart defect. Classic…
Abstract Fryns syndrome is a rare autosomal recessive disorder characterized by diaphragmatic defects, distal limb hypoplasia, facial dysmorphism, and associated major anomalies. It is the most common syndrome associated with…
Abstract CHARGE syndrome is an autosomal dominant disorder characterized by multiple congenital malformations along with developmental and cognitive impairments. The incidence of CHARGE syndrome is 1 : 8500 to 1 : 10,000. The only…
