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Potter facies
Known as:
Potter's facies
A facial appearance characteristic of a fetus or neonate due to oligohydramnios experienced in the womb, comprising ocular hypertelorism, low-set…
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National Institutes of Health
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Related topics
Related topics
4 relations
Allanson Pantzar McLeod syndrome
Autosomal Recessive Polycystic Kidney Disease
RENAL ADYSPLASIA
RENAL-HEPATIC-PANCREATIC DYSPLASIA 1
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2013
2013
POTTER FACIES WITH POLYCYSTIC KIDNEY DISEASE IN ASSOCIATION WITH OTHER RARE CONGENITAL ANOMALIES: TWO CASE REPORTS
Sudhanshu Kumar
,
Sidharth Sankar Maharana
2013
Corpus ID: 76398861
Potter's sequence is more appropriate terminology than potter facies, since not every individual with this syndrome has exactly…
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2000
2000
Antenatal expression of multiple acyl-CoA dehydrogenase deficiency
Christine Vianey-Saban
,
R. Bouvier
,
+4 authors
Marie-Pierre Cordier
Journal of Inherited Metabolic Disease
2000
Corpus ID: 29746214
Multiple acyl-CoA dehydrogenase (MAD) deÐciency or glutaric aciduria type II (McKusick 231680) is due to inherited defects of…
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1999
1999
Branchio-oto-renal syndrome with generalized microdontia: case report.
Prabhu Nt
,
S. Alexander
,
R. John
Oral surgery, oral medicine, oral pathology, oral…
1999
Corpus ID: 23947200
1994
1994
Prenatal and postnatal findings in monochorionic, monoamniotic twins discordant for bilateral renal agenesis-dysgenesis (perinatal lethal renal disease).
B. Cilento
,
B. Benacerraf
,
J. Mandell
Journal of Urology
1994
Corpus ID: 27512566
1988
1988
Interstitial deletion of chromosome 1 [del(1)(q25q32)] in an infant with prune belly sequence
P. Scarbrough
,
B. Files
,
A. Carroll
,
R. Quinlan
,
S. Finley
,
W. Finley
Prenatal Diagnosis
1988
Corpus ID: 23729988
Relatively few cases of deletion 1q have been reported. These cases have been divided into three groups according to assigned…
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Highly Cited
1987
Highly Cited
1987
HRAS1-selected chromosome transfer generates markers that colocalize aniridia- and genitourinary dysplasia-associated translocation breakpoints and the Wilms tumor gene within band 11p13.
D. Porteous
,
W. Bickmore
,
+7 authors
K. Simola
Proceedings of the National Academy of Sciences…
1987
Corpus ID: 33348340
We show that chromosome-mediated gene transfer can provide an enriched source of DNA markers for predetermined, subchromosomal…
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1984
1984
Clinical Aspects of the Branchio-oto-Renal Syndrome
Peter G. Smith
,
Timothy J. Dyches
,
Robert A. Loomis
Otolaryngology Head & Neck Surgery
1984
Corpus ID: 28414316
The branchio-oto-renal syndrome, first defined in 1976, is an autosomal dominant disorder characterized by anomalies of the…
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Highly Cited
1978
Highly Cited
1978
Branchio‐oto‐renal dysplasia and branchio‐oto dysplasia: Two distinct autosomal dominant disorders
M. Meinick
,
M. E. Hodes
,
W. Nance
,
H. Yune
,
A. Sweeney
Clinical Genetics
1978
Corpus ID: 37018072
Three families are presented, one with branchio‐oto‐renal dysplasia (BOR) and two with branchio‐oto dysplasia (BO). The former…
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1976
1976
Severe renal dysgenesis produced by a dominant gene.
N. Fitch
,
H. Srolovitz
A M A Journal of Diseases of Children
1976
Corpus ID: 25552512
A woman with the autosomal dominant syndrome of preauricular pits, cervical fistulae, and partial deafness gave birth to two…
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1969
1969
Association between pneumomediastinum and renal anomalies.
M. Liberman
,
J. M. Abraham
,
N. France
Archives of Disease in Childhood
1969
Corpus ID: 12434647
Bilateral renal agenesis is probably always associated with hypoplastic lungs and the characteristic facial appearance described…
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