Pierre Robin Sequence
Abstract Pierre Robin sequence is characterized by retro/micrognathia, glossoptosis, and cleft palate (U-shaped); however, cleft palate is absent in up to one-half of all cases. Polyhydramnios may also be observed…
Pentalogy of Cantrell
Abstract Pentalogy of Cantrell is a rare syndrome consisting of a spectrum of five structural ventral midline defects, with the combination of an omphalocele and ectopia cordis being the hallmark…
Open Fetal Surgery
Abstract The current field of open fetal surgery is the result of superior diagnostic imaging, comprehensive multidisciplinary teamwork, and ongoing research endeavors. Prenatal indications for fetal surgery continue to expand,…
Neu-Laxova Syndrome
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…
Multifetal Pregnancy Reduction
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…
Meckel-Gruber Syndrome
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…
Holt-Oram Syndrome
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…
Klippel-Trénaunay-Weber Syndrome
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…
Goldenhar Syndrome
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…
Fraser Syndrome
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…
