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January 1965

Potter's Syndrome: Chromosome Analysis of Three Cases With Potter's Syndrome or Related Syndromes

Author Affiliations

James M. Sutherland, MD, The Children's Hospital Research Foundation, Elland Ave and Bethesda, Cincinnati, Ohio 45229.; Department of Pediatrics, University of Cincinnati, the Cincinnati General Hospital, The Children's Hospital, and The Children's Hospital Research Foundation.

Am J Dis Child. 1965;109(1):80-84. doi:10.1001/archpedi.1965.02090020082010

"Potter's syndrome" is often associated with the live-born but unresuscitable infant, yet the clinical diagnosis of Potter's syndrome is rarely made by the physician who is resuscitating the infant. This fact warrants brief review of the syndrome and the presentation of three patients on whom chromosome analyses were performed.

Potter's syndrome includes the following features: low set and malformed ears; long epicanthal folds; flattened bridge of the nose; small mandible; other facial features described by Potter as well as renal agenesis, pulmonary hypoplasia, oligohydramnios, and amnion nodosum.1-3 There are frequent associated skeletal malformations such as clubbing of the hands and feet and other fixed and contracted joints. Similar facial, pulmonary, musculoskeletal, and amniotic findings have been described with a spectrum of renal abnormalities.4,5

The multiple abnormalities of Potter's syndrome and of related syndromes suggest a chromosome defect. To our knowledge, no chromosome analysis of patients with Potter's syndrome