Journal of Clinical and Diagnostic Research, ISSN - 0973 - 709X

Users Online : 20304

AbstractCase ReportDiscussionConclusionReferencesTable and FiguresDOI and Others
Article in PDF How to Cite Citation Manager Readers' Comments (0) Audio Visual Article Statistics Link to PUBMED Print this Article Send to a Friend
Advertisers Access Statistics Resources

Dr Mohan Z Mani

"Thank you very much for having published my article in record time.I would like to compliment you and your entire staff for your promptness, courtesy, and willingness to be customer friendly, which is quite unusual.I was given your reference by a colleague in pathology,and was able to directly phone your editorial office for clarifications.I would particularly like to thank the publication managers and the Assistant Editor who were following up my article. I would also like to thank you for adjusting the money I paid initially into payment for my modified article,and refunding the balance.
I wish all success to your journal and look forward to sending you any suitable similar article in future"

Dr Mohan Z Mani,
Professor & Head,
Department of Dermatolgy,
Believers Church Medical College,
Thiruvalla, Kerala
On Sep 2018

Prof. Somashekhar Nimbalkar

"Over the last few years, we have published our research regularly in Journal of Clinical and Diagnostic Research. Having published in more than 20 high impact journals over the last five years including several high impact ones and reviewing articles for even more journals across my fields of interest, we value our published work in JCDR for their high standards in publishing scientific articles. The ease of submission, the rapid reviews in under a month, the high quality of their reviewers and keen attention to the final process of proofs and publication, ensure that there are no mistakes in the final article. We have been asked clarifications on several occasions and have been happy to provide them and it exemplifies the commitment to quality of the team at JCDR."

Prof. Somashekhar Nimbalkar
Head, Department of Pediatrics, Pramukhswami Medical College, Karamsad
Chairman, Research Group, Charutar Arogya Mandal, Karamsad
National Joint Coordinator - Advanced IAP NNF NRP Program
Ex-Member, Governing Body, National Neonatology Forum, New Delhi
Ex-President - National Neonatology Forum Gujarat State Chapter
Department of Pediatrics, Pramukhswami Medical College, Karamsad, Anand, Gujarat.
On Sep 2018

Dr. Kalyani R

"Journal of Clinical and Diagnostic Research is at present a well-known Indian originated scientific journal which started with a humble beginning. I have been associated with this journal since many years. I appreciate the Editor, Dr. Hemant Jain, for his constant effort in bringing up this journal to the present status right from the scratch. The journal is multidisciplinary. It encourages in publishing the scientific articles from postgraduates and also the beginners who start their career. At the same time the journal also caters for the high quality articles from specialty and super-specialty researchers. Hence it provides a platform for the scientist and researchers to publish. The other aspect of it is, the readers get the information regarding the most recent developments in science which can be used for teaching, research, treating patients and to some extent take preventive measures against certain diseases. The journal is contributing immensely to the society at national and international level."

Dr Kalyani R
Professor and Head
Department of Pathology
Sri Devaraj Urs Medical College
Sri Devaraj Urs Academy of Higher Education and Research , Kolar, Karnataka
On Sep 2018

Dr. Saumya Navit

"As a peer-reviewed journal, the Journal of Clinical and Diagnostic Research provides an opportunity to researchers, scientists and budding professionals to explore the developments in the field of medicine and dentistry and their varied specialities, thus extending our view on biological diversities of living species in relation to medicine.
Knowledge is treasure of a wise man. The free access of this journal provides an immense scope of learning for the both the old and the young in field of medicine and dentistry as well. The multidisciplinary nature of the journal makes it a better platform to absorb all that is being researched and developed. The publication process is systematic and professional. Online submission, publication and peer reviewing makes it a user-friendly journal.
As an experienced dentist and an academician, I proudly recommend this journal to the dental fraternity as a good quality open access platform for rapid communication of their cutting-edge research progress and discovery.
I wish JCDR a great success and I hope that journal will soar higher with the passing time."

Dr Saumya Navit
Professor and Head
Department of Pediatric Dentistry
Saraswati Dental College
On Sep 2018

Dr. Arunava Biswas

"My sincere attachment with JCDR as an author as well as reviewer is a learning experience . Their systematic approach in publication of article in various categories is really praiseworthy.
Their prompt and timely response to review's query and the manner in which they have set the reviewing process helps in extracting the best possible scientific writings for publication.
It's a honour and pride to be a part of the JCDR team. My very best wishes to JCDR and hope it will sparkle up above the sky as a high indexed journal in near future."

Dr. Arunava Biswas
MD, DM (Clinical Pharmacology)
Assistant Professor
Department of Pharmacology
Calcutta National Medical College & Hospital , Kolkata

Dr. C.S. Ramesh Babu
" Journal of Clinical and Diagnostic Research (JCDR) is a multi-specialty medical and dental journal publishing high quality research articles in almost all branches of medicine. The quality of printing of figures and tables is excellent and comparable to any International journal. An added advantage is nominal publication charges and monthly issue of the journal and more chances of an article being accepted for publication. Moreover being a multi-specialty journal an article concerning a particular specialty has a wider reach of readers of other related specialties also. As an author and reviewer for several years I find this Journal most suitable and highly recommend this Journal."
Best regards,
C.S. Ramesh Babu,
Associate Professor of Anatomy,
Muzaffarnagar Medical College,
On Aug 2018

Dr. Arundhathi. S
"Journal of Clinical and Diagnostic Research (JCDR) is a reputed peer reviewed journal and is constantly involved in publishing high quality research articles related to medicine. Its been a great pleasure to be associated with this esteemed journal as a reviewer and as an author for a couple of years. The editorial board consists of many dedicated and reputed experts as its members and they are doing an appreciable work in guiding budding researchers. JCDR is doing a commendable job in scientific research by promoting excellent quality research & review articles and case reports & series. The reviewers provide appropriate suggestions that improve the quality of articles. I strongly recommend my fraternity to encourage JCDR by contributing their valuable research work in this widely accepted, user friendly journal. I hope my collaboration with JCDR will continue for a long time".

Dr. Arundhathi. S
MBBS, MD (Pathology),
Sanjay Gandhi institute of trauma and orthopedics,
On Aug 2018

Dr. Mamta Gupta,
"It gives me great pleasure to be associated with JCDR, since last 2-3 years. Since then I have authored, co-authored and reviewed about 25 articles in JCDR. I thank JCDR for giving me an opportunity to improve my own skills as an author and a reviewer.
It 's a multispecialty journal, publishing high quality articles. It gives a platform to the authors to publish their research work which can be available for everyone across the globe to read. The best thing about JCDR is that the full articles of all medical specialties are available as pdf/html for reading free of cost or without institutional subscription, which is not there for other journals. For those who have problem in writing manuscript or do statistical work, JCDR comes for their rescue.
The journal has a monthly publication and the articles are published quite fast. In time compared to other journals. The on-line first publication is also a great advantage and facility to review one's own articles before going to print. The response to any query and permission if required, is quite fast; this is quite commendable. I have a very good experience about seeking quick permission for quoting a photograph (Fig.) from a JCDR article for my chapter authored in an E book. I never thought it would be so easy. No hassles.
Reviewing articles is no less a pain staking process and requires in depth perception, knowledge about the topic for review. It requires time and concentration, yet I enjoy doing it. The JCDR website especially for the reviewers is quite user friendly. My suggestions for improving the journal is, more strict review process, so that only high quality articles are published. I find a a good number of articles in Obst. Gynae, hence, a new journal for this specialty titled JCDR-OG can be started. May be a bimonthly or quarterly publication to begin with. Only selected articles should find a place in it.
An yearly reward for the best article authored can also incentivize the authors. Though the process of finding the best article will be not be very easy. I do not know how reviewing process can be improved. If an article is being reviewed by two reviewers, then opinion of one can be communicated to the other or the final opinion of the editor can be communicated to the reviewer if requested for. This will help ones reviewing skills.
My best wishes to Dr. Hemant Jain and all the editorial staff of JCDR for their untiring efforts to bring out this journal. I strongly recommend medical fraternity to publish their valuable research work in this esteemed journal, JCDR".

Dr. Mamta Gupta
(Ex HOD Obs &Gynae, Hindu Rao Hospital and associated NDMC Medical College, Delhi)
Aug 2018

Dr. Rajendra Kumar Ghritlaharey

"I wish to thank Dr. Hemant Jain, Editor-in-Chief Journal of Clinical and Diagnostic Research (JCDR), for asking me to write up few words.
Writing is the representation of language in a textual medium i e; into the words and sentences on paper. Quality medical manuscript writing in particular, demands not only a high-quality research, but also requires accurate and concise communication of findings and conclusions, with adherence to particular journal guidelines. In medical field whether working in teaching, private, or in corporate institution, everyone wants to excel in his / her own field and get recognised by making manuscripts publication.

Authors are the souls of any journal, and deserve much respect. To publish a journal manuscripts are needed from authors. Authors have a great responsibility for producing facts of their work in terms of number and results truthfully and an individual honesty is expected from authors in this regards. Both ways its true "No authors-No manuscripts-No journals" and "No journalsNo manuscriptsNo authors". Reviewing a manuscript is also a very responsible and important task of any peer-reviewed journal and to be taken seriously. It needs knowledge on the subject, sincerity, honesty and determination. Although the process of reviewing a manuscript is a time consuming task butit is expected to give one's best remarks within the time frame of the journal.
Salient features of the JCDR: It is a biomedical, multidisciplinary (including all medical and dental specialities), e-journal, with wide scope and extensive author support. At the same time, a free text of manuscript is available in HTML and PDF format. There is fast growing authorship and readership with JCDR as this can be judged by the number of articles published in it i e; in Feb 2007 of its first issue, it contained 5 articles only, and now in its recent volume published in April 2011, it contained 67 manuscripts. This e-journal is fulfilling the commitments and objectives sincerely, (as stated by Editor-in-chief in his preface to first edition) i e; to encourage physicians through the internet, especially from the developing countries who witness a spectrum of disease and acquire a wealth of knowledge to publish their experiences to benefit the medical community in patients care. I also feel that many of us have work of substance, newer ideas, adequate clinical materials but poor in medical writing and hesitation to submit the work and need help. JCDR provides authors help in this regards.
Timely publication of journal: Publication of manuscripts and bringing out the issue in time is one of the positive aspects of JCDR and is possible with strong support team in terms of peer reviewers, proof reading, language check, computer operators, etc. This is one of the great reasons for authors to submit their work with JCDR. Another best part of JCDR is "Online first Publications" facilities available for the authors. This facility not only provides the prompt publications of the manuscripts but at the same time also early availability of the manuscripts for the readers.
Indexation and online availability: Indexation transforms the journal in some sense from its local ownership to the worldwide professional community and to the public.JCDR is indexed with Embase & EMbiology, Google Scholar, Index Copernicus, Chemical Abstracts Service, Journal seek Database, Indian Science Abstracts, to name few of them. Manuscriptspublished in JCDR are available on major search engines ie; google, yahoo, msn.
In the era of fast growing newer technologies, and in computer and internet friendly environment the manuscripts preparation, submission, review, revision, etc and all can be done and checked with a click from all corer of the world, at any time. Of course there is always a scope for improvement in every field and none is perfect. To progress, one needs to identify the areas of one's weakness and to strengthen them.
It is well said that "happy beginning is half done" and it fits perfectly with JCDR. It has grown considerably and I feel it has already grown up from its infancy to adolescence, achieving the status of standard online e-journal form Indian continent since its inception in Feb 2007. This had been made possible due to the efforts and the hard work put in it. The way the JCDR is improving with every new volume, with good quality original manuscripts, makes it a quality journal for readers. I must thank and congratulate Dr Hemant Jain, Editor-in-Chief JCDR and his team for their sincere efforts, dedication, and determination for making JCDR a fast growing journal.
Every one of us: authors, reviewers, editors, and publisher are responsible for enhancing the stature of the journal. I wish for a great success for JCDR."

Thanking you
With sincere regards
Dr. Rajendra Kumar Ghritlaharey, M.S., M. Ch., FAIS
Associate Professor,
Department of Paediatric Surgery, Gandhi Medical College & Associated
Kamla Nehru & Hamidia Hospitals Bhopal, Madhya Pradesh 462 001 (India)
On May 11,2011

Dr. Shankar P.R.

"On looking back through my Gmail archives after being requested by the journal to write a short editorial about my experiences of publishing with the Journal of Clinical and Diagnostic Research (JCDR), I came across an e-mail from Dr. Hemant Jain, Editor, in March 2007, which introduced the new electronic journal. The main features of the journal which were outlined in the e-mail were extensive author support, cash rewards, the peer review process, and other salient features of the journal.
Over a span of over four years, we (I and my colleagues) have published around 25 articles in the journal. In this editorial, I plan to briefly discuss my experiences of publishing with JCDR and the strengths of the journal and to finally address the areas for improvement.
My experiences of publishing with JCDR: Overall, my experiences of publishing withJCDR have been positive. The best point about the journal is that it responds to queries from the author. This may seem to be simple and not too much to ask for, but unfortunately, many journals in the subcontinent and from many developing countries do not respond or they respond with a long delay to the queries from the authors 1. The reasons could be many, including lack of optimal secretarial and other support. Another problem with many journals is the slowness of the review process. Editorial processing and peer review can take anywhere between a year to two years with some journals. Also, some journals do not keep the contributors informed about the progress of the review process. Due to the long review process, the articles can lose their relevance and topicality. A major benefit with JCDR is the timeliness and promptness of its response. In Dr Jain's e-mail which was sent to me in 2007, before the introduction of the Pre-publishing system, he had stated that he had received my submission and that he would get back to me within seven days and he did!
Most of the manuscripts are published within 3 to 4 months of their submission if they are found to be suitable after the review process. JCDR is published bimonthly and the accepted articles were usually published in the next issue. Recently, due to the increased volume of the submissions, the review process has become slower and it ?? Section can take from 4 to 6 months for the articles to be reviewed. The journal has an extensive author support system and it has recently introduced a paid expedited review process. The journal also mentions the average time for processing the manuscript under different submission systems - regular submission and expedited review.
Strengths of the journal: The journal has an online first facility in which the accepted manuscripts may be published on the website before being included in a regular issue of the journal. This cuts down the time between their acceptance and the publication. The journal is indexed in many databases, though not in PubMed. The editorial board should now take steps to index the journal in PubMed. The journal has a system of notifying readers through e-mail when a new issue is released. Also, the articles are available in both the HTML and the PDF formats. I especially like the new and colorful page format of the journal. Also, the access statistics of the articles are available. The prepublication and the manuscript tracking system are also helpful for the authors.
Areas for improvement: In certain cases, I felt that the peer review process of the manuscripts was not up to international standards and that it should be strengthened. Also, the number of manuscripts in an issue is high and it may be difficult for readers to go through all of them. The journal can consider tightening of the peer review process and increasing the quality standards for the acceptance of the manuscripts. I faced occasional problems with the online manuscript submission (Pre-publishing) system, which have to be addressed.
Overall, the publishing process with JCDR has been smooth, quick and relatively hassle free and I can recommend other authors to consider the journal as an outlet for their work."

Dr. P. Ravi Shankar
KIST Medical College, P.O. Box 14142, Kathmandu, Nepal.
On April 2011

Dear team JCDR, I would like to thank you for the very professional and polite service provided by everyone at JCDR. While i have been in the field of writing and editing for sometime, this has been my first attempt in publishing a scientific paper.Thank you for hand-holding me through the process.

Dr. Anuradha
On Jan 2020

Important Notice

Case report
Year : 2011 | Month : November | Volume : 5 | Issue : 6 | Page : 1264 - 1266 Full Version

A Fatal Case of Potter’s Syndrome- A Case Report

Published: November 1, 2011 | DOI:
A.Himabindu, B.Narasinga Rao

Asst.Professor, Department of Anatomy, MIMS Professor&H.O.D, Department of Anatomy, MIMS

Correspondence Address :
Department of Anatomy,
Maharajah’s Institute of Medical Sciences, Nellimarla
Mobile : 9866639946
E-mail :


Potter’s Syndrome is a rare congenital disorder which is diagnosed at birth. It refers to a group of findings which are associated with the lack of amniotic fluid due to renal failure in an unborn infant. It is characterized by the typical physical appearance of a foetus, which is associated with pulmonary hypoplasia. In oligohydramnios, the foetus is not cushioned from the walls of the uterus. The pressure of the uterine wall leads to an unusual facial appearance, abnormal limbs, or limbs that are held in abnormal positions or contractures. The foetus will die soon after the birth due to respiratory insufficiency.


Potter’s Syndrome, oligohydramnios, Potter’s facies, pulmonary hypoplasia

Potter’s Syndrome refers to the typical physical appearance of a foetus which is associated with pulmonary hypoplasia as a direct result of kidney failure. After 16 weeks of gestation, the amount of amniotic fluid which is present, mainly depends on the foetal urine production. In normal foetal development, the foetus continuously swallows the amniotic fluid, which then gets reabsorbed by the gastrointestinal tract and is then reintroduced into the amniotic sac by the kidneys. Oligohydramnios occurs if the volume of the amniotic fluid is less than normal for that period of gestation. This may be due to decreased urine production which is caused by bilateral renal agenesis or the obstruction of the urinary tract and the occasional prolonged rupture of the membranes(1). The foetal urine is critical for the proper development of the lungs by aiding in the expansion of the airways, the alveoli by means of hydrodynamic pressure and by also supplying Proline, which is a critical amino acid for lung development. If the alveoli and thereby the lungs, are underdeveloped at the time of birth, the infant will not be able to breathe air properly and will go into respiratory distress shortly after the birth due to pulmonary hypoplasia. This is the primary cause of death in the Potter’s Syndrome infants, which is secondary to renal failure. The foetal urine also serves to cushion the foetus from being compressed by the mother’s uterus as it grows. The resulting oligohydramnios is the cause of the typical facial appearance of the foetus, which is known as “Potter’s facies” which consists of a flattened nose, recessed chin, epicanthal folds and low-set abnormal ears (2). The underlying cause of this condition is often undetermined, but is genetic in some cases, and the inheritance pattern depends on the specific genetic cause. It is more common in infants with a positive family history of kidney malformation.(3) It has a fatal outcome and is incompatible with life, but the Potter’s sequence due to a non-renal cause has a higher survival rate. Though it is rare, it is believed to be more common because the infants are either stillborn or may die soon after the birth. There is no known prevention for this fatal condition. So, an ultrasound screening for oligohydramnios and the absence of the foetal kidneys is recommended for couples with a previous affected pregnancy between 16-18 weeks of gestation, so that thetermination of the pregnancy may be offered before it becomes viable. If the baby survives, it has to be resuscitated at delivery and treated for any urinary outlet obstruction, but the outcome is poor(3).

Case Report

A stillborn, male foetus was brought to the Department of Anatomy, MIMS, Nellimarla. On examination, the foetus was found to have caudal acromelia of the right lower limb (Table/Fig 1) and congenital talepus equino varus with trifid toes on the left side (Table/Fig 2) ]. The foetus had a flattened nose and low set ears. Hypoplasia of the external genitalia was observed, which showed a micropenis, cryptorchidism and anal atresia (imperforate anus) (Table/Fig 3).

The foetal autopsy revealed a liver of normal size, with an embedded gall bladder. The differentiation of the gastrointestinal tract upto the sigmoid colon and undivided cloacae were associated with the anomalies of the genitourinary system (urogenital dysplasia). The kidneys were cystic, with no renal parenchyma [Table/Fig.2a]. The ureters of both the kidneys were joined together in the pelvis and they opened on the posterior aspect of the cloaca [Table/Fig.2b]. The cloaca was undivided, having a common opening into the penis [Table/Fig.2c]. The patent urachus was present.

In the thorax, the heart was small in size, which was associated with pulmonary hypoplasia [Table/Fig 3a]. The arch of the aorta showed four branches from the right to the left; they were, the right common carotid artery, the left common carotid artery, the left subclavian artery and the right subclavian artery [Table/Fig-3b]. The right subclavian artery was the last branch which came from the posterior aspect of the arch which passed in front of trachea behind the superior vena cava[Table/Fig-3c].


The ‘Potter’s syndrome’ was described by Edith Potter (4) in newborns with bilateral renal agenesis or other kidney abnormalities, including renal aplasia, dysplasia, hypoplasia, or multicystic disease. Potter found the incidence of this syndrome to be 1 in 4,000 births, with a predominance in males. The male to femaleratio was 2:1, suggesting that certain genes of the Y-chromosome could act as modifiers. Potter’s syndrome can also be seen in infants with normal kidneys due to the prolonged leakage of amniotic fluid during the middle gestational weeks(5) .The nonrenal features of Potter’s syndrome include altered facies, aberrant hand and foot positioning, late foetal growth deficiency, and pulmonary hypoplasia, which are known as the oligohydramnios tetrad, as they are the consequence of foetal compression due to prolonged oligohydramnios (6).

Scott and Goodburn(7) found no renal malformations in 50% autopsied second- or third-trimester foetuses with the features of Potter’s syndrome There was a high incidence of chorioamnionitis, suggesting that the mechanism of oligohydramnios was occult amniotic fluid leakage.

The ultrasonographic findings of foetuses with severe kidney disease from 23 families showed persistent oligohydramnios, severely decreased or absent renal function, and the features of Potter’s syndrome and the affected infants usually died within hours to days after their birth (8) .

Genetic abnormalities like autosomal recessive polycystic kidney disease, autosomal dominant polycystic kidney disease, hereditary renal adysplasia which may be due to mutations in the RET gene and the UPK3A gene and chromosomal abnormalities may cause developmental abnormalities which may lead to Potter’s syndrome. This syndrome occurs sporadically, but when it is caused due to the autosomal dominant triad, it may be inherited.

A majority of the possible pathways are autosomal recessive in nature and additionally, these candidate pathways would be expected to involve the genes which are expressed in the developing urogenital system (UGS).(1) (9)

Knudsen(10) reported a 38-year-old man with unilateral renal agenesis and an ipsilateral seminal vesicle cyst, whose sister had embryologically analogous malformations, a Gartner duct cyst, a bicornuated uterus, and renal agenesis. Buchta et al. (11) postulated a relationship between renal adysplasia and vaginal atresia, which is also known as the Mayer-Rokitansky-Kuster syndrome. Schimke and King(12) observed a three-generation transmission of renal agenesis-dysgenesis with a uterine anomaly. The woman was found to have a didelphic uterus with a blind-ending left vaginal pouch, and an absent left kidney. She subsequently gave birth to a premature female infant who had dolichocephaly, low-set ears, and a deformed nose. The baby died soon after its birth. Its autopsy showed pulmonary hypoplasia and nearly total renal agenesis. The vagina, uterus, and the fallopian tubes were grossly normal. The woman’s father had unilateral renal agenesis. These findings suggested that developmental defects in the mesonephric and the paramesonephric ducts may have a common genetic basis and Schimke and King used the term ‘hereditary urogenital adysplasia’ for the combination of anomalies of the mullerian duct with developmental errors of the urinary tract.

Non working or mutated genes on the long arm of chromosome 10(10q) result in the abnormal development of the urogenital tract. (13)

Ogata (14)reported ten Japanese patients with the monosomy of chromosome 10q26, six patients had urinary anomalies such as vesicoureteral reflux and hypoplastic kidney, and 8 had genital anomalies such as micropenis, hypospadias, cryptorchidism, and hypoplastic labia majora. Miyamoto et al (15) found defectsof urogenital development in mice who lacked the Emx2 genes on the distal 10q chromosome. Skinner et al. (16) identified 10 different heterozygous mutations in the RET gene. In vitro functional expression studies showed that the mutations resulted in either constitutive RET phosphorylation or absent phosphorylation. Yang et al. (17) observed a significant association between the primary vesicoureteral reflux and a G691S polymorphism in the RET gene among French Canadian patients with Potter’s syndrome. The stillborn foetus which was under study was a destitute (unclaimed child, without parents), which was brought to the department and as such, his prenatal history could not be probed. As the foetus had cystic kidneys with urogenital defects, a possible genetic condition was thought of and it could not be further probed as the parents could not be traced.

Embryology During nephrogenesis, genes, transcription factors, and growth factors control the essential interaction between the ureteric bud and the metanephric mesenchyme. The genetic disorder often occurs prior to day 31 of the foetal development. The ureteric bud which forms the kidneys, fails to develop and the absence of the kidneys causes a deficiency of the amniotic fluid after 12 to 16 weeks. The decreased volume of the amniotic fluid causes the growing foetus to become compressed by the mother’s uterus. This compression can cause many physical deformities in the foetus.


Potter’s syndrome refers to the typical facial characteristics and associated pulmonary hypoplasia of a neonate as a direct result of oligohydramnios due to the renal pathology. Severe respiratory insufficiency leads to a fatal outcome in most of the infants. Though it is not inherited, sometimes the primary cause may have a genetic reason like autosomal dominant polycystic kidney, which may run in families. So, if there is any family history of renal malformation or a previous affected pregnancy, a mid gestation ultrasound examination is advised for the amount of amniotic fluid, the foetal kidneys and the urinary tract. As there is no known method of prevention, the mortality rate is high. This reported case of Potter’s syndrome was fatal as it was associated with bilateral cystic kidneys and an undivided cloaca.


Genetic and Rare Disease Information Center-I has had three still born children with Potter’s syndrome-Question and answer.
Potter’s sequence, From Wikipedia,the free encyclopedia
Khatami F. Potter’s syndrome: A study of 15 patients. Arch Iranian Med 2004;7(3): 186-9
Potter E L.. Facial characteristics of infants with bilateral renal agenesis. American Journal of Obstetrics and Gynecology. 1946;51:885-8.
Bain A. D., Smith I. I., Gauld I. K. Newborn after the prolonged leakage of liquor amnii. Brit. Med. J. 1964; 2: 598-9. [PubMed: 14171064]
Thomas L.T. et al.Oligohydramnios,cause of the nonrenal features of Potter’s syndrome, including pulmonary hypoplasia. Journal of Paediatrics June 1974; 84(6) 811-4. available online 31 March 2006.
Scott R. J., Goodburn S. F. Potter’s syndrome in the second trimester: prenatal screening and pathological findings in 60 cases of oligohydramnios sequence. Prenatal Diag. 1995; 15: 519-525. [PubMed: 7544896]
Schmidt E. C. H., Hartley A. A., Bower R. Renal aplasia in sisters. Arch. Path. 1952; 54: 403-6. [PubMed: 12984947]
The Heartbreak of Potter’s Syndrome. Written by Rachel Pool, Fort Zumwalt North High School.
Knudsen J. B., Brun B., Emus H. C. Familial renal agenesis and urogenital malformations: seminal vesicle cyst and vaginal cyst with bicornuate uterus in siblings. Scand. J. Urol. Nephrol. 1979; 13: 109- 112. [PubMed: 419378]
Buchta R. M., Viseskul C., Gilbert E. F., Sarto G. E., Opitz J. M. Familial bilateral renal agenesis and hereditary renal adysplasia. Z. Kinderheilk. 1973; 115: 111-129. [PubMed: 4744207]
Schimke R. N., King C. R. Hereditary urogenital adysplasia. Clin. Genet. 1980;18: 417-420. [PubMed: 7449179]
Laney D J, Gale T. Urogenital adysplasia syndrome,Gale Encyclopedia of Genetic Disorders, Part II, 2005.
Ogata T, Muroya K, Sasagawa I, Kosho T, Wakui K, Sakazume S, Ito K, Matsuo N, Ohashi H, Nagai T,et al Genetic evidence for a novel gene(s) which is involved in urogenital development on 10q26. Kidney Int. 2000; 58: 2281-2290. [PubMed: 11115062]
Miyamoto N, Yoshida M, Kuratani S, Matsuo I, Aizawa S. Defects of urogenital development in mice who lack Emx2. Development1997; 124: 1653-1664. [PubMed: 9165114]
Skinner M. A, Safford S. D, Reeves J. G, Jackson M. E, Freemerman A. J. Renal aplasia in humans is associated with RET mutations. Am. J. Hum. Genet. 2008; 82: 344-351. [PubMed: 18252215]
Yang, Y., Houle, A.-M., Letendre, J., Richter, A. The RET Gly691Ser mutation was associated with primary vesicoureteral reflux in the French-Canadian population from Quebec. Hum. Mutat. 2008; 29: 695-702. [PubMed: 18273880]

DOI and Others


JCDR is now Monthly and more widely Indexed .
  • Emerging Sources Citation Index (Web of Science, thomsonreuters)
  • Index Copernicus ICV 2017: 134.54
  • Academic Search Complete Database
  • Directory of Open Access Journals (DOAJ)
  • Embase
  • EBSCOhost
  • Google Scholar
  • HINARI Access to Research in Health Programme
  • Indian Science Abstracts (ISA)
  • Journal seek Database
  • Google
  • Popline (reproductive health literature)