Potter's syndrome - a fatal constellation of anomalies

An autopsy requisition of a stillborn, male foetus born to a 23 year old primigravida, was received in the department of Pathology, Command Hospital, Pune, India, in July 2012. Autopsy findings were hypoplastic mandible; left lower limb contracture; hypoplasia of right lower limb; bilateral renal dysgenesis; post prostatic urethral obstruction; and bilateral hypoplastic lungs (Figs 1, 2), features classical of Potter's syndrome12.

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Fig. 1

(A). Hypoplastic mandible. (B). Hypoplasia of right lower limb (below knee) and contracture of left lower limb. (C). Dilated urinary bladder (asterisk) and bilateral hydroureters (black arrowheads).

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Fig. 2

(A). Hematoxylin and Eosin stained section of kidney with inset showing the island of immature chondroid tissue (arrow) (1000X). (B). Hematoxylin and Eosin stained section of urinary bladder showing a flattened transitional epithelium and marked hypertrophy of the muscularis propria (arrow) (400X). (C). Hematoxylin and Eosin stained section of lungs showing the un-aerated alveoli (400X), with the inset showing the cuboidal pneumocytes (arrow) (1000X).

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After 16 weeks, amount of amniotic fluid depends on foetal urine production. In these cases decreased urine production is caused by bilateral renal agenesis and/or by obstruction in the urinary tract. Urine is critical for development of lungs by aiding in expansion of alveoli by means of hydrodynamic pressure and by supplying Proline, a critical amino acid for lung maturation. Urine also serves to cushion the foetus1. There is no known prevention for this fatal condition. Hence, ultrasound screening for oligohydramnios and urogenital anomalies is recommended, between 16-18 wk of gestation3.