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

Author(s):  
Márcia Marinho ◽  
Sara Nunes ◽  
Cátia Lourenço ◽  
Mónica Melo ◽  
Cristina Godinho ◽  
...  
2018 ◽  
Vol 2018 ◽  
pp. 1-6 ◽  
Author(s):  
Gennaro Scutiero ◽  
Bernardi Giulia ◽  
Piergiorgio Iannone ◽  
Luigi Nappi ◽  
Danila Morano ◽  
...  

Objectives. To deepen the knowledge in obstetrics on a very rare pregnancy complication: umbilical cord hematoma. Methods. A review of the case reports described in the last ten years in the literature was conducted in order to evaluate epidemiology, predisposing factors, potential outcomes, prenatal diagnosis, and clinical management. Results. Spontaneous umbilical cord hematoma is a rare complication of pregnancy which represents a serious cause of fetal morbidity and mortality. There are many risk factors such as morphologic anomalies, infections, vessel wall abnormalities, iatrogenic causes, and traction or torsion of the cord, but the exact etiology is still unknown. Conclusions. Due to the rarity of this condition, every new case of umbilical cord hematoma should be reported in order to improve the knowledge of predisposing factors, prenatal diagnosis, and clinical management.


2020 ◽  
Vol 48 (6) ◽  
pp. 350-356
Author(s):  
Didar Kurt ◽  
Tuğba Saraç Sivrikoz ◽  
Halil İbrahim Kalelioğlu ◽  
Recep Has ◽  
Hasan Orhan Ziylan ◽  
...  

2012 ◽  
Vol 34 (4) ◽  
pp. 1034-1037 ◽  
Author(s):  
Hani Ghawi ◽  
Mohamed M. Zghouzi ◽  
Taher M. Emahbes ◽  
Sawsan M. Awad

1997 ◽  
Vol 17 (2) ◽  
pp. 161-165 ◽  
Author(s):  
WALDO SEPULVEDA ◽  
PHILLIPA M. KYLE ◽  
JAMIYAH HASSAN ◽  
EHUD WEINER

Author(s):  
M.Y. Morozova, V.V. Zotov, M.S. Kovalenko et all

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.


Author(s):  
E.N. Glavatskaya , O.V. Pribushenya , N.A. Venchikova

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.


2019 ◽  
Vol 19 (2) ◽  
pp. e271-e275 ◽  
Author(s):  
Sara Tanini ◽  
Alessandra D. Fisher ◽  
Icro Meattini ◽  
Simonetta Bianchi ◽  
Jiska Ristori ◽  
...  

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 ◽  
...  

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.


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