Potter's Syndrome Research Articles

Limb deformations in oligohydramnios sequence: Effects of gestational age and duration of oligohydramnios

In order to study the pathogenesis of prenatal deformities, we reviewed maternal histories, delivery records, pathology reports, radiographs, and photographs of 90 fetuses with prenatally documented oligohydramnios at gestational ages from 14 weeks to term. The causes of oligohydramnios included premature rupture of membranes (44 cases), fetal renal insufficiency (25 cases), idiopathic (15 cases), and twin-twin transfusion (6 cases). The fetuses were grouped according to gestational age at delivery and duration of oligohydramnios. Sixty-three fetuses (70%) had documented contractures. As expected, contractures were more frequent with earlier onset and longer duration of oligohydramnios. During the 2nd trimester, the frequency of contractures in fetuses with oligohydramnios was 77% compared to 52% in the 3rd trimester (chi(2) = 5.33, 1 df, P =.02). Considering all gestational ages together, 57% of fetuses had contractures after less than 2 weeks of oligohydramnios compared to 81% of fetuses with a longer duration of oligohydramnios (chi2 = 6.23, 1 df, P <.02). The type of contracture varied with gestational age. Clubfoot was the most frequent at all ages, but hand contractures such as camptodactyly were common only in the 2nd trimester while the broad flat hand originally described in Potter sequence was found almost exclusively in the fetuses with oligohydramnios in the 3rd trimester. Of the 63 fetuses with oligohydramnios and contractures, 25 (40%) had either additional malformations or family history that could explain contractures independent of oligohydramnios.

Branchio-oto-renal syndrome with generalized microdontia: Case report

Branchio-oto-renal syndrome, first defined in 1976, is an autosomal dominant disorder characterized by anomalies of the external, middle, and inner ear in association with preauricular sinuses, branchial cleft anomalies, and varying degrees of renal dysplasia, including aplasia. Less frequently expressed phenotypic abnormalities include lacrimal duct aplasia and stigmata of renal dysgenesis known as Potter facies . Although the precise incidence of the disorder is unknown, it may be more common than is generally appreciated, and it appears to be distinct from other autosomal dominant otobranchial syndromes. Moreover, not all features of the syndrome are expressed in all carriers of the gene. An unusual case of branchio-oto-renal syndrome with generalized microdontia of the permanent dentition is reported. (Oral Surg Oral Med Oral Pathol Oral Radiol Endod 1999;87:180-3)

Limb deformations in oligohydramnios sequence: effects of gestational age and duration of oligohydramnios

Oligohydramnios, regardless of cause, results in a sequence of anomalies including characteristic facies, contractures and lung hypoplasia, but the timing and duration of of oligohydramnios required to produce different features of the sequence, especially limb defects, are not well defined. Other causes of restricted fetal movement such as fetal neuromuscular disorders also result in limb contractures and lung hypoplasia. Because such neuromuscular disorders often cause polyhydramnios which in turn predisposes to premature rupture of membranes, such fetuses may present with ruptured membranes and oligohydramnios. Additional data regarding the type and incidence of limb contractures in fetuses with differing onset and duration of oligohydramnios is needed to provide accurate counseling regarding the underlying cause and recurrence risks.We have reviewed maternal histories, delivery records, pathology reports, radiographs and photographs of 90 fetuses with gestational ages from 14 weeks to term with >24 hrs documented oligohydramnios. The causes of oligohydramnios included premature rupture of membranes (44 cases), fetal renal insufficiency (25 cases), idiopathic (15 cases) and twin-twin transfusion (6 cases). The fetuses were grouped according to gestational age at delivery and duration of oligohydramnios. As expected, contractures were more frequent with earlier onset and longer duration of oligohydramnios. During the second trimester, the frequency of contractures in fetuses with oligohydramnios was 77% compared to 52% in the third trimester(p=.02). Considering all gestational ages together, 57% of fetuses had contractures after less than 2 weeks of oligohydramnios compared to 81% of fetuses with a longer duration of oligohydramnios (p<.02). The type of contracture varied with gestational age. Club foot was the most frequent at all ages, but hand contractures such as camptodactyly were common only in the second trimester while the broad flat hand originally described in Potter sequence was found almost exclusively in the third trimester. Of the 59 fetuses with oligohydramnios and contractures, 25 (42%) had either additional malformations or family history that could explain contractures independent of oligohydramnios.Oligohydramnios sequence is common in the second trimester, but presents differently compared to the third trimester and is more easily confused with other birth defects. Fetuses with oligohydramnios and contractures require a detailed examination and review of history before the contractures can be attributed to oligohydramnios sequence.

Normal pulmonary function in a monoamniotic twin discordant for bilateral renal agenesis: Report and review

Renal agenesis and obstructive urinary tract anomalies causing oligohydramnios usually result in pulmonary hypoplasia. We report on the first female monoamniotic twin born with a combination of bilateral renal agenesis, agenesis of the urinary collecting system, absent external genitalia, anal atresia and single umbilical artery, compatible with VATER association but with normal pulmonary function. The infant had none of the manifestations of Potter sequence, in particular the facial changes and pulmonary hypoplasia typically associated with bilateral renal a/dysgenesis. The monoamniotic cotwin had normal renal function, such that sufficient amniotic fluid volume was maintained. This patient emphasizes the importance of adequate amniotic fluid volume for normal pulmonary development. The possible underestimation of genital malformations in the VATER association should be considered. Also noteworthy is the rare absence of external genitalia.

Chromosome 22q11 deletion presenting as the Potter sequence.

A female fetus with the Potter sequence, caused by unilateral renal agenesis and contralateral multicystic renal dysplasia, was found to have a submicroscopic deletion in chromosome 22q11. The only associated...

Pathological study of the kidney and the lung in patients with Potter sequence

The condition in infants showing the characteristic facial abnormalities, limb deformities, and pulmonary hypoplasia induced by oligohydramnios is termed Potter sequence (PS). In addition to bilateral renal agenesis, Potter sequence could be caused by other urological abnormalities such as cystic dysplasia and obstructive uropathy. Although lethal in most of the patients with PS, some exceptional infants were reported to survive in spite of the antenatal demonstration of oligohydramnios from renal abnormalities. These surviving patients put new questions to us regarding the management of both respiratory and renal failure starting from the newborn periods. The diversity of clinical courses in patients with antenatally detected PS may imply that this entity has a spectrum of severity. Our study of infants autopsied on the diagnosis of PS was undertaken to determine various histological grade of the kidneys and the lungs. Thirty-two autopsy cases of PS (19 males and 13 females) diagnosed by the presence of the characteristic stigmata, oligohydramnios, and renal or urological abnormalities were studied retrospectively. Patients were divided according to the urological abnormalities into 3 groups; renal hypodysplasia, urinary obstruction, and polycystic kidney disease (PCKD). Renal histology was evaluated by two parameters; renal glomerular count (RGC), and dysplastic grade. Developmental aspects of the lung were judged by lung/body-weight ratio (L/ B ratio) and radial alveolar count (RAC) proposed by Emery. The underlying urological disorders included renal hypodysplasia in 22 patients, obstruction in 7, and polycystic kidney disease in 3. Dysplastic grade of 29 patients with hypodysplasia and obstruction consisted of grade 4 in 12 patient, grade 3 in 9, and grade 2 in 8. In 10 kidneys from 8 patients with grade 2-dysplasia, RGC was significantly fewer than that of normal fetuses for the gestational age. The term patient with PS showed the glomerular count equivalent to normal fetus of around 25 weeks of gestation. L/B ratio indicated definite pulmonary hypoplasia in 25 of 29 patients. The ratio was much smaller than normal in another 4 patients. RAC was calculated in 24 patients; of these only 2 had normal count for gestational age. In another 22, the number of air space stopped to increase at about 20 to 25 weeks of gestation. There was a tendency for L/B ratio to decrease according to dysplastic grade (1.3% for grade 2 vs. 0.9% for grade 3 and 4). The primary urological abnormalities leading to PS included bilateral renal hypodysplasia, obstructive uropathy, and PCKD. Histological study of the kidneys indicates that PS is the spectrum disease with various degree of nephron formation. The development of the lung depends, in part, on the grade of renal dysplasia.

Neonatal mesenchyme temporal bone study: typical receding pattern versus increase in Potter's sequence.

The fate of mesenchyme, which lines the fetal and newborn bony middle ear, is not well understood. The authors wished to test previous observations that a greater amount of mesenchyme was found in Potter's sequence (renal anomalies, pulmonary hypoplasia, and oligohydramnios). Using celloidin-embedded neonatal temporal bones (68 cases, 123 ears), with clinical and autopsy information, middle ear volumes were compared among diagnostic groups using analysis of variance. In 16 ears of Potter's sequence cases the volume of mesenchyme increased in proportion to the size of the middle ear. Conversely, in all other cases the volume of mesenchyme remained constant compared to increasing middle ear size. Both the volume of the bony middle ear and the volume of the air cavity increased at 15 mm3/500 g of body weight (gbw). Mesenchyme percentage decreased by 2%/500 gbw. Middle ear mesenchyme appears to recede rather than reabsorb. However, in Potter's sequence cases the volume of mesenchyme increases, raising issues of a missing renal signal that inhibits mesenchymal growth under normal circumstances.

Liver and Brain Iron Deficiency in Newborn Infants with Bilateral Renal Agenesis (Potter's Syndrome)

Liver and Brain Iron Deficiency in Newborn Infants with Bilateral Renal Agenesis (Potter's Syndrome)

Liver and brain iron deficiency in newborn infants with bilateral renal agenesis (Potter's syndrome).

Significant changes in fetal iron status potentially occur in pregnancies in which reduced fetal nutrient delivery is severe enough to result in intrauterine growth retardation (IUGR), particularly if chronic fetal hypoxia is also present and increases fetal iron demand for hemoglobin synthesis. Neonates rarely die following IUGR secondary to maternal preeclampsia, but bilateral renal agenesis, which is also characterized by reduced maternal-fetal blood flow, late gestation placental failure, and IUGR, is uniformly fatal. We measured neonatal liver iron concentration, as an assessment of fetal storage iron status, and heart and brain iron concentrations, as assessments of nonheme tissue iron status, in 11 infants who died in the neonatal period of bilateral renal agenesis, and compared them with values for gestational age-matched control infants whose gestation was not complicated by fetal growth retardation or hypoxia. Stainable nonheme iron in the hepatocytes was significantly reduced in all and completely absent in 8 of the 11 cases of renal agenesis (P < .001 compared with control). The mean +/- SEM liver iron concentration of the bilateral renal agenesis group (999 +/- 218 micrograms/g dry tissue weight) was 26% of the control value (3894 +/- 548 micrograms/g dry tissue weight; P < .001). Brain iron concentration was also lower in the group with bilateral renal agenesis (109 +/- 17 vs. 161 +/- 19; P = .015) and was correlated with liver iron concentration (r = .47; P = .03). Heart iron concentrations were similar in the two groups. Nine of the subjects with bilateral renal agenesis had placental weights below the fifth percentile for gestational age. The bilateral renal agenesis group had a lower mean birth weight (P < .001) and had a higher prevalence of fetal growth retardation (55% vs. 0%; P < .001). We conclude that infants with bilateral renal agenesis are at risk for severe iron deficiency of storage and nonstorage tissues. Liveborn infants with nonfatal fetal conditions characterized by significant restriction of maternal-fetal blood flow may also be at significant risk for postnatal iron deficiency.

Multi-Well Subsurface Study of the Stratigraphic Sequence of the Potter Formation in the Midway-Sunset Field, Kern County, California: ABSTRACT

To understand the stratigraphic nature of the Potter Formation reservoirs, a multi-well study along a west-east cross-section was done using dipmeter, Formation MicroScanner, and FMI[trademark] (Fullbore Formation Microlmager) data. Thermal EOR wells are drilled only into the heavy oil-bearing portion of the reservoir, thus each well does not penetrate the complete Potter sequence, but penetrates successively younger sandstone and conglomerate members from west to east. Wireline logs and continuous core data were used for correlation and calibration of the dip and image data. The image data revealed detailed stratification, bedding, and sedimentary structures, identifying conglomeratic, bioturbated and stratified sequences. Correlation with continuous core clarified which features were more interpretive. The image data, available on three of the eleven wells, was then correlated to dipmeter data, both in the form of computed dip data and interpolated electrical images. Each of the eleven wells penetrated only one or two members of the Potter Formation. Using the dip data, it was possible to reconstruct a true stratigraphic thickness type log of the Potter Formation. The interpreted stratigraphic data, revealing bedded, bioturbated, and conglomeratic depositional systems was combined into a single type log of the Potter Formation. The resultant type log can be usedmore » for various sequence stratigraphic, engineering, and thermal EOR reservoir characterization applications in the Midway-Sunset Field.« less

Polycystic kidney disease: Etiology, pathogenesis, and treatment

Once viewed as hopelessly incurable disorders and the dustbin for careers in academic medicine, the polycystic kidney diseases have emerged as prime targets of pathophysiologic study and palliative and definitive treatment in the era of molecular medicine. Polycystic kidney disease (PKD) may be hereditary or acquired. The major inherited types are autosomal dominant (AD) and autosomal recessive (AR). ADPKD is caused by at least two (and possibly three) genes located on separate chromosomes, while ADPKD-1 is due to a 14 kb transcript in a duplicated region on the short arm of chromosome 16 very near the a-globin gene cluster and the gene for one form of tuberous sclerosis. ADPKD-2 has been assigned to the long arm of chromosome 4. ARPKD is due to a mutated gene on both copies of the long arm of chromosome 6. Cysts originate in renal tubules. Proliferation of tubule epithelial cells modulated by endocrine, paracrine, and autocrine factors is a major element in the pathogenesis of renal cystic diseases. In addition, fluid that is abnormally accumulated within the cysts is derived from glomerular filtrate and, to a greater extent, by transepithelial fluid secretion. Abnormal synthesis and degradation of matrix components associated with interstitial inflammation are additional features in the pathogenesis of renal cystic diseases. The ADPKD genotypes are characterized by bilateral kidney cysts, hypertension, hematuria, renal infection, stones, and renal insufficiency. ADPKD is a systemic disorder; cysts appear with decreasing frequency in the kidneys, liver, pancreas, brain, spleen, ovaries, and testis. Cardiac valvular disorders, abdominal and inguinal hernias, and aneurysms of cerebral and coronary arteries and aorta are also associated with ADPKD. Treatment is supportive: dietary regulation of salt and protein intake, control of hypertension and renal stones, and dialysis and transplantation at the end stage. ARPKD is a relatively rare disease that causes clinical symptoms at birth, with significant mortality in the first month of life. The cysts develop primarily in the collecting ducts because of a failure in the maturation process. Early complications include Potter's syndrome; excessive size of the kidneys, causing respiratory dysfunction; hypertension; and renal insufficiency. Hepatic fibrosis is an associated extrarenal problem that results in significant morbidity in young children and adolescents. Treatment includes supportive care, dialysis, and renal transplantation. Acquired cysts (solitary/simple) are commonplace in older persons. Multiple cysts may be seen in association with potassium deficiency, congenital disorders, metabolic diseases, and toxic renal injury. Acquired polycystic disease occurs in the setting of chronic, progressive renal scarring due to diabetes mellitus, chronic glomerulonephritis, or other renal disorders that lead to azotemia. Acquired cystic kidney disease (ACKD) is seen most commonly in patients undergoing dialysis (>75,000 cases) and is discovered incidentally in most instances. The nephrons that survive the underlying renal diseases are stimulated to grow and accumulate abnormal amounts of fluid. The disease is the consequence of the uremic environment, with replacement of renal function with an allograft leading to reversal of the cystic lesions in some cases. In contrast to patients with ADPKD and ARPKD, those with ACKD are more likely to have solitary or multicentric adenocarcinomas. Future therapies of hereditary renal cystic disorders will be directed at diminishing the extent of epithelial cellular proliferation, transepithelial fluid secretion, and interstitial fibrosis and at correcting the genetic defects.

Reduced neonatal liver iron concentrations after uteroplacental insufficiency

Neonatal liver (storage) but not heart (nonstorage) tissue iron concentrations were reduced by 60% at autopsy in 15 newborn infants who had gestations complicated by uteroplacental insufficiency because of maternal hypertension or Potter syndrome. The hepatic iron reductions in term and preterm infants, and with either antecedent condition, were similar. (J P EDIATR 1995;127:308-11)

Potter's syndrome in the second trimester--prenatal screening and pathological findings in 60 cases of oligohydramnios sequence.

Fifty-two second-trimester and eight third-trimester (> 28/40) autopsies with clinical or pathological evidence of oligohydramnios sequence ('Potter's syndrome') were reviewed. Twenty-eight cases had renal anomalies (71 per cent in terminations following prenatal ultrasound), 27 had no renal malformation (35 per cent with chorioamnionitis), and five had external assessments only. In 15 cases, the renal lesion was part of a multiple malformation syndrome. Seven cases had a lesion which either recurred in a sibling in the same family or was a recognized autosomal recessive syndrome. Three cases had an abnormal karyotype, two of which had renal anomalies. Maternal serum alpha-fetoprotein (AFP) did not discriminate between cases with renal malformations and those without. Pulmonary hypoplasia was commoner in third-trimester than in second-trimester cases. External appearance and absent umbilical artery were not reliable predictors of underlying internal anomalies. These findings reflect the shift from postnatal to prenatal diagnosis in modern practice. In this series, mainly second-trimester cases, 50 per cent of cases had no malformations, in a condition which is traditionally associated with renal disease. The high incidence of chorioamnionitis suggests that the mechanism of oligohydramnios is occult amniotic fluid leakage. Prenatal diagnosis of oligohydramnios in the second trimester is dependent on ultrasound scanning and a full post-mortem examination is necessary to identify any underlying fetal cause.

Urinary Tract Anomalies Detected by Prenatal Ultrasound Examination at Mayo Clinic Rochester

To determine the frequency of fetal urinary tract anomalies and to characterize the types of such abnormalities detected on ultrasonography and the outcome of affected patients during a 15-year period at our institution. We retrospectively reviewed the findings on maternal prenatal ultrasound examinations and the postnatal medical records of 56 children with urinary tract abnormalities detected by prenatal ultrasound examination at Mayo Clinic Rochester from November 1979 to June 1994. Of the 56 children, 18 (32%) had severe urinary tract anomalies in conjunction with oligohydramnios, pulmonary hypoplasia, and perinatal death (Potter's syndrome). The other 38 infants had various urinary tract abnormalities--most commonly, isolated hydronephrosis and multicystic dysplasia of the kidney. Six of the 38 children had more than one renal abnormality detected prenatally. Reflux was noted in association with prenatally detected urinary tract abnormalities in 4 of 32 newborns (12%) who underwent voiding cystourethrography. In fetuses with normal amniotic fluid volume, the perinatal outcome was good. Children with lower urinary tract obstruction had evidence of more severe renal dysfunction than did those with involvement at more proximal levels. The presence or absence of urinary tract obstruction postnatally could not be determined reliably on the basis of prenatal ultrasound appearance. In this study, more than half of all prenatally detected urinary tract abnormalities were isolated hydronephrosis or multicystic dysplasia of the kidney. Postnatal renal function could not be reliably predicted on the basis of prenatal ultrasound findings.

Renale tubul�re Dysgenesie mit fetaler Nierenvenenthrombose

Renal tubular dysgenesis is a rarely recognized condition characterized by oligohydramnios, Potter's sequence and congenital anuria leading to stillbirth or neonatal death from respiratory failure. It is thought to be inherited in an autosomal recessive manner. Definitive diagnosis is based on renal histology, revealing the lack of proximal tubule differentiation. Two additional cases of affected sibs in a family with parental consanguinity are reported. Lectin and immunohistochemical studies confirmed structural and functional immaturity of the proximal tubule. Further findings include bilateral renal vein thrombosis. The clinical and morphological parameters defining this disorder and the possible mechanisms of pathogenesis are discussed.

Cocaine use in pregnancy in Amsterdam.

To study the effects of cocaine use in pregnancy in Amsterdam, clinical data on cocaine-using pregnant women (n = 21) and their offspring (n = 23) were obtained retrospectively (1987-1994) at the Academic Medical Center, Amsterdam. Infants exposed to cocaine had a median gestational age of 39 weeks and a median birth weight of 3090 g. There were six preterm infants, two small-for-gestational-age infants and five infants with a small head circumference. Three infants had a congenital malformation. One infant (Potter's syndrome) died shortly before birth. One infant had congenital syphilis, four had intracerebral abnormalities on ultrasound and four had abnormal neurologic symptoms in the neonatal period. One infant died after 21 days of life. At follow-up four infants showed abnormal development. In 12 of the 23 infants (52%), one or more possible effects of cocaine were found.

Prenatal and Postnatal Findings in Monochorionic, Monoamniotic Twins Discordant for Bilateral Renal Agenesis-Dysgenesis (Perinatal Lethal Renal Disease)

We report on a male twin born with no functional renal tissue and without the extrarenal manifestations of Potter facies, skin changes, club feet and pulmonary hypoplasia. The monoamniotic co-twin had normal renal function, thereby maintaining sufficient amnniotic fluid to avoid the classic presentation of Potter’s syndrome. Prenatal diagnosis of this condition allowed prompt confirmation of these findings and support for the parents without unnecessary intervention. This experiment of nature demonstrates the necessity of normal renal function in the maintenance of amniotic fluid and its relationship to the proper development of the pulmonary and integumentary systems.

The early prenatal sonographic diagnosis of renal agenesis: Techniques and possible pitfalls

Out of 13,252 cases in which fetal bilateral echogenic kidneys were detected by transvaginal sonography between 12 and 18 weeks' gestation, there were nine fetuses where oval hypoechogenic masses were detected in the renal bed. In five fetuses where hypoechogenic masses in the renal bed were sonographically visualized, postabortal examination was compatible with renal agenesis and the hypoechogenic masses proved to be enlarged adrenals. In three additional cases, unilateral renal agenesis was accompanied by unilateral enlarged adrenals, radiologically confirmed postnatally. In one case, a false-positive sonographic diagnosis of Potter syndrome was made because of bilateral hypoechogenic masses in the renal bed. Postabortal examination detected hypoplastic kidneys, but of normal histology, in a dyskaryotic fetus with trisomy 22. In four cases of renal agenesis, the amniotic fluid was of normal volume until the 17th week. In two of the five cases of Potter syndrome, a cystic structure, compatible with the urinary bladder, was detected in the pelvis at 14 weeks. The diagnostic criteria for renal agenesis in the early fetus differ from those used in the second half of gestation.

Oligohydramnion - Perinatale Komplikationen und Erkrankungen bei Mutter und Kind*

In our study, complications of oligohydramnios were examined. In medical records of all 5,210 deliveries of our department between 1987 and 1990 181 cases of oligohydramnios were identified. The diagnosis was confirmed by ultrasound and based on the method described by Mannings and Platt: amniotic fluid depots of less than 1 cm were defined as oligohydramnios. All 181 cases met the above definition, which results in an incidence of 3.5% pregnancies with reduced amniotic fluid. We examined the records of mother and foetus, the delivery and perinatal complications and follow-up of the newborn. In more than 60%, foetal asphyxia, breech position and other anomalies during delivery were followed by Cesarean section or vaginal operative delivery by forceps or vacuum extraction. In 30 cases, oligohydramnios was caused by premature rupture of membranes. In the other cases, the diagnosis based on maternal or foetal complications such as gestosis (n = 7), abruptio placentae (n = 10), foetal growth retardation (n = 47) and malformations or chromosomal anomalies. 89 newborn were transferred to a paediatric hospital immediately after delivery. Potter's syndrome was the main anticipated diagnosed malformation (n = 20). The lack of amniotic fluid was furthermore followed by a higher rate of pulmonary complications such as RDS and hypoplasia of the neonatal lung (n = 21). In conclusion, our study underlines the fact, that oligohydramnios must be regarded as an important reason of high risk pregnancy followed by many complications for foetus and newborn. The incidence of perinatal mortality in our examination was 7.2%. This rate is 10 fold higher than in the total number of deliveries of our department.

Potter sequence and consanguinity ? a case report

The first child of first-cousin parents had Potter sequence, including rudimentary, dysplastic kidneys and pulmonary hypoplasia. The girl died after 5 h. During the next pregnancy, early fetal ultrasound was normal. In the 33rd week, however, ultrasound revealed oligohydramniosis and reduced renal size. After 40 weeks of gestation a healthy girl of normal weight without any stigmata was born. Her pulmonary function and X-ray were normal. Renal ultrasound demonstrated small kidneys with high echogenicity. There was a transient renal insufficiency with a peak serum creatinine of 160 mumol/l. At 5 months of age the infant still has an increased serum creatinine concentration of 57 mumol/l and an inulin clearance of 29 ml/min per 1.73 m2. In this case there is a possibility of an autosomal recessive inheritance.