Fibrodysplasia ossificans progressiva: bilateral hallux valgus on ultrasound a clue for the first prenatal diagnosis for this condition-clinical report and review of the literature

2014 ◽  
Vol 35 (3) ◽  
pp. 305-307 ◽  
Author(s):  
Catalina Maftei ◽  
Françoise Rypens ◽  
Isabelle Thiffault ◽  
Johanne Dubé ◽  
Anne-Marie Laberge ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Hallux Valgus ◽  
Fibrodysplasia Ossificans Progressiva ◽  
Clinical Report ◽  
Review Of The Literature

Fibrodysplasia Ossificans Progressiva – FOP

2018 ◽  
Vol 27 (04) ◽  
pp. 215-221
Author(s):  
R. Morhart ◽  
O. Semler ◽  
L. Seefried
Keyword(s):  
Hallux Valgus ◽  
Activin A ◽  
Fibrodysplasia Ossificans Progressiva ◽  
Intramuskuläre Injektionen ◽  
Sind Eine

ZusammenfassungBei der Fibrodysplasia ossificans progressiva (FOP) besteht aufgrund einer aktivierenden Mutation im Gen für den Activin A Rezeptor Typ 1 (ACVR1 / ALK2), eine Prädisposition zu heterotoper Knochenbildung in Weichgeweben, insbesondere der Muskulatur. Die Prävalenz der Erkrankung wird in einer Größenordnung von 1 pro 1–2 Mio. angegeben. Klinisch kommt es intrauterin zu Fehlbildungen, z. B. zu einem bds. Hallux valgus, der bei der überwiegenden Mehrheit der Patienten bereits bei Geburt besteht. Postnatal kommt es meist in den ersten Lebensjahren beginnend im Schulter-/ Nackenbereich episodenartig bereits nach kleineren Verletzungen zu schmerzhaften Weichteilreaktionen, sogenannten flareups die nachfolgend im Sinne einer enchondralen Ossifikation verknöchern. Die Akkumulation dieser irreversiblen Verknöcherungen im Weichgewebe bedingt eine zunehmende Einschränkung der Beweglichkeit bis hin zur kompletten Einsteifung des Körpers. Letztlich kommt es durch die fortschreitende Rigidität des Thorax zu einer respiratorischen Insuffizienz und kardialer Dekompensation.Therapeutisch steht im Vordergrund die Vermeidung von Traumata als Auslöser für die Entstehung extraossären Knochengewebes, insbesondere auch der Verzicht auf unnötige iatrogene Schädigungen durch Operationen, Biopsien und intramuskuläre Injektionen. Supportiv sind eine adäquate Hilfsmittelversorgung, psychologische Unterstützung und eine analgetische Versorgung erforderlich. Im Falle eines Traumas werden kurzfristig hochdosiert Glucocorticoide empfohlen, um das Risiko und Ausmaß der flare-ups und nachfolgender Verknöcherungen zu reduzieren. Ergänzend können NSAR hilfreich sein. Derzeit werden unterschiedliche neue Therapieansätze entwickelt. Am weitesten fortgeschritten ist dabei der Retinolsäure Rezeptor Gamma (RARg) Agonist Palovarotene, der durch Interferenz mit der ALK2 vermittelten Signalkaskade einen zentralen Punkt im Pathomechanismus der Erkrankung adressiert.

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

scholarly journals Hepatic Adenomatosis in Aicardi Syndrome: a Clinical Report and Review of the Literature

2021 ◽  
Author(s):  
Enrico Boninsegna ◽  
Emilio Simonini ◽  
Stefano Crosara ◽  
Antonia Semeraro ◽  
Stefano Colopi
Keyword(s):  
Clinical Report ◽  
Review Of The Literature ◽  
Aicardi Syndrome ◽  
Hepatic Adenomatosis

scholarly journals Clinical report of a neonate carrying a large deletion in the 10p15.3p13 region and review of the literature

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Qiao-Yan Shao ◽  
Pei-Lin Wu ◽  
Bi-Yun Lin ◽  
Sen-Jing Chen ◽  
Jian Liu ◽  
...  
Keyword(s):  
Digeorge Syndrome ◽  
Clinical Manifestations ◽  
Large Deletion ◽  
Terminal Deletion ◽  
Facial Features ◽  
Clinical Report ◽  
Review Of The Literature ◽  
Case Presentation ◽  
Contiguous Gene ◽  
Renal Abnormalities

Abstract Background Terminal deletion of chromosome 10p is a rare chromosomal abnormality. We report a neonatal case with a large deletion of 10p15.3p13 diagnosed early because of severe clinical manifestations. Case presentation Our patient presented with specific facial features, hypoparathyroidism, sen sorineural deafness, renal abnormalities, and developmental retardation, and carried a 12.6 Mb deletion in the 10p15.3 p13 region. The terminal 10p deletion involved in our patient is the second largest reported terminal deletion reported to date, and includes the ZMYND11 and GATA3 genes and a partial critical region of the DiGeorge syndrome 2 gene (DGS2). Conclusion On the basis of a literature review, this terminal 10p deletion in the present case is responsible for a specific contiguous gene syndrome. This rare case may help the understanding of the genotype–phenotype spectrum of terminal deletion of chromosome 10p.

scholarly journals Prenatal diagnosis of Baraitser – Winter syndrome using exome sequencing: Clinical report and review of literature

2021 ◽  
Vol 64 (11) ◽  
pp. 104318
Author(s):  
Maria Papamichail ◽  
Emmanouil Manolakos ◽  
Ioannis Papoulidis ◽  
Elisavet Siomou ◽  
Anna Eleftheriades ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Exome Sequencing ◽  
Clinical Report ◽  
Review Of Literature
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