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Marilyn Preus, PhD; Paige Kaplan, MB, Bch; Trevor H. Kirkham, FRCS

Am J Dis Child. 1977;131(1):62-64.

Abstract
• We describe two infants with the cerebro-oculofacio-skeletal syndrome in whom oligohydramnios is an additional finding. The oligohydramnios could be accounted for in one by renal agenesis but cannot in the other, who had a functioning and histologically normal kidney. The diagnosis of Potter syndrome was suspected in both patients. It is important in counseling to recognize the distinctive phenotype of this autosomal-recessive syndrome.

(Am J Dis Child 131:62-64, 1977)

Author Affiliations
From the Departments of Medical Genetics (Drs Preus and Kaplan) and Ophthalmology (Dr Kirkham) The Montreal Children's Hospital.

Footnotes
Reprint requests to Department of Medical Genetics, The Montreal Children's Hospital, 2300 Tupper St, Montreal H3H 1P3, Canada (Dr Preus).

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