In fact, nearly all reported cases of sirenomelia also present with BRA.It is associated with childhood polycystic kidney disease which is autosomal recessive in origin [4] Other anomalies of the classic Potter sequence infant include a parrot beak nose, redundant skin, and the most common characteristic of infants with BRA which is a skin fold of tissue extending from the medial canthus across the cheek.
The adrenal glands often appear as small oval discs pressed against the posterior abdomen due to the absence of upward renal pressure.
[citation needed] In one study, the causes leading to Potter sequence were bilateral renal agenesis in 21.25% of cases; cystic dysplasia in 47.5%; obstructive uropathy in 25%; and others in 5.25%.
[citation needed] BRA appears to have a predominantly genetic etiology and many cases represent the most severe manifestation of an autosomal dominant condition with incomplete penetrance and variable expressivity.
[6] This is the first reported genetic lesion implicated in the activation of retinoic acid receptor (RAR) targets that has been associated with renal agenesis in humans.
The majority of other possible candidate genetic pathways are autosomal recessive in nature and do not coincide with the frequency or penetrance at which BRA typically occurs in the human population.
Additionally, candidate genetic pathways would be expected to involve genes expressed in the developing urogenital system (UGS).
Fetal urine production begins in early gestation and comprises the majority of the amniotic fluid in the second and third trimesters of pregnancy.
[8] A few weeks before she was born, Dr. Jessica Bienstock, a professor of maternal–fetal medicine at Johns Hopkins Hospital,[9] administered a series of saline solution injections into the mother's womb to help the baby's lungs to develop.
[10] On February 8, 2016, at the age of two, Abigail received a kidney from her father at the Lucile Packard Children's Hospital Stanford in California.
[15][17] It was only much later that she and others were to attribute the multiple congenital deformities, including the features of Potter's facies and also pulmonary hypoplasia, to the prolonged lack of amniotic fluid.
[17] Potter went on to become a pioneer in the field of human renal development; her contributions are still employed and appreciated by clinicians and researchers to the present time.
The term Potter syndrome is most frequently associated with the condition of oligohydramnios sequence regardless of the root cause of the absence or reduced volume of amniotic fluid.
It was not until later that the term became more encompassing as it was noted that other causes of failed fetal urine production also resulted in similar physical characteristics and prognoses of the fetuses and infants with BRA (that which Potter originally described in 1946).
Since then, the term Potter syndrome has become a misnomer and experts have attempted not to eliminate the terminology, but to modify it in a way so as to be able to determine the different root causes by creating a nomenclature system.