Results 51 to 60 of about 1,327,945 (260)

Potter’s Sequence with Bilateral Renal Agenesis and Congenital Pouch Colon with Rectovaginal Fistula: A Case Report [PDF]

open access: yesJournal of Clinical and Diagnostic Research, 2019
Bilateral renal agenesis is an uncommon diagnosis of prenatal life. It is seen to be associated with many other congenital anomalies and is also seen in association with Potter's sequence.
PREETI RAI   +3 more
doaj   +1 more source

Zinner Syndrome

open access: yesEuropean Journal of Case Reports in Internal Medicine, 2021
Zinner syndrome is a developmental anomaly of the urogenital tract. This condition is defined by the triad of unilateral renal agenesis, ipsilateral seminal vesicle cyst and ipsilateral ejaculatory duct obstruction. The syndrome is due to malformation of
Abakar Djidda   +5 more
doaj   +1 more source

Intra-uterine fetal demise caused by amniotic band syndrome after standard amniocentesis [PDF]

open access: yes, 2000
The amniotic band syndrome represents a prime example of exogenous disruption of an otherwise normal feta I development. It may be a sequel of invasive diagnostic procedures such as amniocentesis or fetal blood sampling. A 38-year-old gravida II, para II
Bauerfeind, I.   +4 more
core   +1 more source

Herlyn-Werner-Wunderlich Syndrome: Pre-and Post-Surgical MRI and US Findings [PDF]

open access: yes, 2015
Herlyn-Werner-Wunderlich syndrome (HWWS) is a rare congenital anomaly of the female urogenital tract that associates Müllerian duct anomalies with mesonephric duct anomalies.
Jogo, R, Lopes Dias, J
core   +1 more source

Obstructed hemivagina with ipsilateral renal agenesis (OHVIRA) syndrome with imperforate anus

open access: yesJournal of Pediatric Surgery Case Reports, 2016
OHVIRA syndrome (Obstructed hemivagina with ipsilateral renal agenesis) is a rare Mullerian duct anomaly that results in uterine didelphys, obstructed vaginal vault, and unilateral renal agenesis.
Peter Cosgrove   +3 more
doaj   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken   +4 more
wiley   +1 more source

Case Report With Biallelic Variants in GCNT2 Implicates Exon 1B in Congenital Cataracts

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT GCNT2‐related cataracts is a disorder characterized by bilateral congenital cataracts (CC) of various types (with or without the adult i blood phenotype) and is caused by biallelic variants in GCNT2, which has 3 major isoforms, differentiated by alternative splicing of the first exon (known as exon 1A, B, and C).
Audrey O'Neill   +5 more
wiley   +1 more source

Scimitar syndrome with renal agenesis

open access: yesNorth American Journal of Medical Sciences, 2012
Partial pulmonary venous connection anomaly is relatively uncommon form of congenital heart diseases. The quite rare combination of this anomaly with hypoplasia of the right lung and dextroposition of the heart is designated as scimitar syndrome. Most cases are presented in infantile period and adult presentation is exceedingly rare.
Kahraman, Hasan   +3 more
openaire   +3 more sources

It's not always varicocele: A strange case of Zinner syndrome [PDF]

open access: yes, 2015
A 42-year-old man presented with a huge varicocele. The patient was completely asymptomatic and he did not complain of dysuria, perineal discomfort, or ejaculatory pain.
Bertolotto, Michele   +5 more
core   +2 more sources

Pregnancy in a blind hemi-cavity of Robert’s uterus with ipsilateral renal agenesis: a case report and literature review

open access: yesJournal of International Medical Research, 2019
Robert’s uterus is an asymmetric septate uterus with a noncommunicating cavity and is a rare Müllerian anomaly. We present a rare case of pregnancy in a blind cavity and the first report of ipsilateral renal agenesis.
Qiao Yang   +4 more
semanticscholar   +1 more source

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