Prenatal diagnosis of cerebro‐oculo‐facio‐skeletal syndrome: Report of three fetuses and review of the literature

2020 ◽  
Vol 182 (5) ◽  
pp. 1236-1242
Author(s):  
Pauline Le Van Quyen ◽  
Nadège Calmels ◽  
Maryse Bonnière ◽  
Suzanne Chartier ◽  
Féréchté Razavi ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Review Of The Literature ◽  
Syndrome Report

scholarly journals Prenatal Diagnosis of Congenital High Airway Obstruction Syndrome: Report of Two Cases and Brief Review of the Literature

2013 ◽  
Vol 2013 ◽  
pp. 1-4 ◽  
Author(s):  
Burcu Artunc Ulkumen ◽  
Halil Gursoy Pala ◽  
Nalan Nese ◽  
Serdar Tarhan ◽  
Yesim Baytur
Keyword(s):  
Prenatal Diagnosis ◽  
Airway Obstruction ◽  
Relevant Literature ◽  
Fetal Mri ◽  
Review Of The Literature ◽  
Management Options ◽  
Upper Airways ◽  
Antenatal Ultrasonography ◽  
Syndrome Report

Congenital high airway obstruction syndrome (CHAOS) is the obstruction of the fetal upper airways, which may be partial or complete. It is usually incompatible with life. Prenatal recognition of the disease is quite important due to the recently described management options. We report here two cases of CHAOS due to tracheal atresia diagnosed by antenatal ultrasonography and fetal MRI. We also briefly review the relevant literature with the associated management options.

Dorsal Hemi-Lithotomy Position for Femoral Fracture Nailing and the Well Leg Compartment Syndrome. Report of Two Cases, Review of the Literature

Swiss Surgery ◽  
2002 ◽  
Vol 8 (4) ◽  
pp. 193-196 ◽  
Author(s):  
Christodoulou ◽  
Garofalo ◽  
Echeverri ◽  
Pelet ◽  
Mouhsine
Keyword(s):  
Compartment Syndrome ◽  
Femoral Fracture ◽  
Lithotomy Position ◽  
Review Of The Literature ◽  
Revue De La Littérature ◽  
Examen Clinique ◽  
Positionnement Du Patient ◽  
Syndrome Report

Le syndrome de loge sur positionnement prolongé en lithotomie ou en hémilithitomie, est une complication rare en chirurgie. Les dommages neurovasculaires sont souvent permanents. On reporte deux cas d'ostéosynthèse du fémur en position d'hemilithotomie, compliqués d'un syndrome de loge de la jambe controlatérale. Une revue de la littérature sur les 40 cas décrits, jusqu'à ce jour, nous démontre que cette complication est fortement liée au positionnement du patient et à la durée opératoire. Compte tenu du pronostic fonctionnel incertain, une limitation du temps de positionnement en lithotomie doit être recherchée. La surveillance postopératoire doit être rigoureuse et sans hésitation quant à une fasciotomie éventuelle sur simple examen clinique ou après la mesure de la pression dans les loges. Une technique de positionnement sur la table orthopédique est proposée.

Experience of prenatal diagnosis of true knots of the umbilical cord during ultrasound examination in the third trimester of gestation

2019 ◽  
Author(s):  
M.Y. Morozova, V.V. Zotov, M.S. Kovalenko et all
Keyword(s):  
Prenatal Diagnosis ◽  
Umbilical Cord ◽  
Ultrasound Examination ◽  
Technological Advance ◽  
Prenatal Ultrasound ◽  
Ultrasound Diagnosis ◽  
Review Of The Literature ◽  
Third Trimester ◽  
The Third

Despite the rapid technological advance, the expansion of prenatal ultrasound diagnosis, as well as the accumulation of experience by both domestic and foreign experts, prenatal recognition of true knots of the umbilical cord causes significant difficulties. Three cases of successful ultrasound diagnosis of true knots of the umbilical cord and brief review of the literature are presented.

Meconium peritonitis: review of literature and own clinical observations

2020 ◽  
Author(s):  
E.N. Glavatskaya , O.V. Pribushenya , N.A. Venchikova
Keyword(s):  
Prenatal Diagnosis ◽  
Premature Birth ◽  
Surgical Care ◽  
Intestinal Wall ◽  
Meconium Peritonitis ◽  
Review Of Literature ◽  
Review Of The Literature ◽  
Clinical Observations ◽  
Loop Expansion ◽  
The Impact

Two clinical cases of meconium peritonitis in the fetuses are presented. The diagnosis was made prenatally at 30+5 and 20+1 weeks of gestation. The main ultrasound signs were ascites, loop expansion and thickening of the intestinal wall, peritoneal calcifications, meconium pseudocysts. In one case, pregnancy was complicated by polyhydramnios. In both cases, the pregnancy ended in premature birth, followed by surgical treatment during the first days of life. A review of the literature on the topic are discussed the etiology, the spectrum and frequency of ultrasound signs suggesting this condition in the fetus, the effectiveness of prenatal diagnosis, the prognosis for the life and health of the newborn, as well as the impact of the quality and timeliness of the prenatal diagnosis on the management of pregnancy and timeliness of surgical care for the newborn.

scholarly journals Clinical and Molecular Characteristics and Outcome of Cystic Partially Differentiated Nephroblastoma and Cystic Nephroma: A Narrative Review of the Literature

Cancers ◽  
2021 ◽  
Vol 13 (5) ◽  
pp. 997
Author(s):  
Sophie E. van Peer ◽  
Corine J. H. Pleijte ◽  
Ronald R. de Krijger ◽  
Marjolijn C. J. Jongmans ◽  
Roland P. Kuiper ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Genetic Testing ◽  
Renal Tumor ◽  
Molecular Characteristics ◽  
Extensive Literature ◽  
Cystic Nephroma ◽  
Limited Information ◽  
Review Of The Literature ◽  
Genetic Characteristics ◽  
Excellent Outcome

In children presenting with a predominantly cystic renal tumor, the most likely diagnoses include cystic partially differentiated nephroblastoma (CPDN) and cystic nephroma (CN). Both entities are rare and limited information on the clinical and molecular characteristics, treatment, and outcome is available since large cohort studies are lacking. We performed an extensive literature review, in which we identified 113 CPDN and 167 CN. The median age at presentation for CPDN and CN was 12 months (range: 3 weeks–4 years) and 16 months (prenatal diagnosis–16 years), respectively. No patients presented with metastatic disease. Bilateral disease occurred in both entities. Surgery was the main treatment for both. Two/113 CPDN patients and 26/167 CN patients had previous, concomitant, or subsequent other tumors. Unlike CPDN, CN was strongly associated with somatic (n = 27/29) and germline (n = 12/12) DICER1-mutations. Four CPDN patients and one CN patient relapsed. Death was reported in six/103 patients with CPDN and six/118 CN patients, none directly due to disease. In conclusion, children with CPDN and CN are young, do not present with metastases, and have an excellent outcome. Awareness of concomitant or subsequent tumors and genetic testing is important. International registration of cystic renal tumor cohorts is required to enable a better understanding of clinical and genetic characteristics.

Prenatal diagnosis of fibular aplasia‐tibial campomelia‐oligosyndactyly syndrome: Two case reports and review of the literature

2020 ◽  
Author(s):  
Márcia Marinho ◽  
Sara Nunes ◽  
Cátia Lourenço ◽  
Mónica Melo ◽  
Cristina Godinho ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Case Reports ◽  
Review Of The Literature

The Greig cephalopolysyndactyly syndrome: Report of a family and review of the literature

1985 ◽  
Vol 22 (1) ◽  
pp. 59-68 ◽  
Author(s):  
Thomaz Rafael Gollop ◽  
Luiz Roberto Fontes ◽  
John M. Opitz ◽  
James F. Reynolds
Keyword(s):  
Review Of The Literature ◽  
Greig Cephalopolysyndactyly Syndrome ◽  
Syndrome Report
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