Potter syndrome historical perspective

Bilateral Renal Agenesis (BRA) was first recognized as a defect of human fetal development in 1671 by Wolfstrigel. However, it was not until 1946 when Edith Potter (b.1901 – d.1993) extensively and painstakingly described the BRA phenotype of the human fetus that the defect was fully appreciated.^[1] Up until this time the condition itself was considered to be extremely rare. However, in part to Potter’s work it has come to light that the condition presents far more frequently than previously reported. Potter analyzed approximately 5000 autopsy cases performed on fetuses and newborn infants over a period of ten years and found that 20 of these infants presented with BRA, all of which had distinctive facial characteristics. These facial characteristics have subsequently be termed as being known as Potter facies. From her analysis she was able to deduce the sequence of events that leads to what is now known as Potter Syndrome, Potter Sequence, or Oligohydramnios Sequence. Potter went on to become a pioneer in the field of human renal development and her contributions are still employed and appreciated by clinicians and researchers to this day.

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