Introduction The VATER association is a nonrandom association of congenital malformations that include v ertebral anomalies, a nal atresia, t racheo e sophageal fistula, and r enal and r adial limb anomalies. This definition has been expanded to include vascular…
Introduction Sirenomelia is a rare congenital disorder that was previously considered a severe form of caudal regression, although it is currently considered a completely different entity. Also known as the mermaid syndrome , it is characterized by a variable degree…
Introduction Prune-belly syndrome (PBS), also known as Eagle-Barrett syndrome, is a triad of anomalies composed of abdominal wall flaccidity, urologic abnormalities, and bilateral cryptorchidism. The typical urologic findings are distended bladder, hydronephrosis, and renal dysplasia. A patent urachus is a…
Introduction Pierre Robin sequence (PRS) is a result of hypoplasia of the mandible leading to retrognathia or micrognathia, cleft palate, and posterior displacement of the tongue (glossoptosis). The classic cleft palate in PRS is a U-shape. Retrognathia and glossoptosis lead…
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…