Abstract Prune-belly syndrome is characterized by urologic abnormalities, flaccidity, or dysplasia in abdominal wall musculature, and cryptorchidism (in males). Because of the poorly developed abdominal wall muscles, the infant’s abdomen…
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…
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…
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,…
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…
