Potter syndrome (renal agenesis syndrome; renofacial syndrome)

General: Unknown etiology; may be severe form of the trisomy 18 syndrome; results fro 727j91h m prolonged oligohydramnios of any cause.

Ocular: Hypertelorism; pronounced epicanthal folds extending down the cheeks; antimongoloid slant of palpebral fissure.

Clinical: Flat bridge of the nose; low-set ears; facial deformities; micrognathia; pulmonary hypoplasia; cystic dysplasia of kidney to agenesis; oligohydramnios; clubbing of hands and feet; spina bifida; prominent infracanthal folds; flattened beaked nose; creased skin; positional deformities of the limbs.

Franceschetti A. Craniofacial dysostosis. In: Symposium on surgical and medical management of congenital anomalies of the eye. St. Louis: CV Mosby, 1968:77.

Goldbloom RE, et al. Hereditary renal disease associated with nerve deafness and ocular lesions. Pediatrics 1957; 20:2

Kohart EC. End-stage renal disease. In: Oski, F, ed. Principles and Practice of Pediatrics, 2nd ed. Philadelphia: Lippincott, 1994:1782.

Passarge E, Southerland JM. Potter's syndrome: chromosome analysis of three cases with Potter's syndrome or related syndromes. Am J Dis Child 1965; 109:80.

Potter EL. Bilateral renal agenesis. J Pediatr 1946; 29:68.