Prenatal Diagnosis of Snijders Blok-Campeau Syndrome in a Fetus with Macrocephaly

2021 ◽  
pp. 1-4
Author(s):  
Gustavo Malinger ◽  
Chen Hoffmann ◽  
Reuven Achiron ◽  
Michal Berkenstadt

We present the prenatal imaging and whole exomics sequencing with the newly described Snijders Blok-Campeau macrocephaly syndrome.

2007 ◽  
Vol 27 (9) ◽  
pp. 874-878 ◽  
Author(s):  
D. Lissauer ◽  
S. A. Larkins ◽  
S. Sharif ◽  
L. MacPherson ◽  
C. Rhodes ◽  
...  

2020 ◽  
Vol 66 (11) ◽  
pp. 1526-1529
Author(s):  
Rita de Cássia S. Alves ◽  
Adriana Ubirajara Silva Petry ◽  
Josenel Maria Barcelos Marçal ◽  
Bruno Hochhegger ◽  
Andréa Souto Damin ◽  
...  

SUMMARY BACKGROUND: Asymmetric or heteropagus conjoined twins is a rare occurrence, with an incidence of one case in 1-2 million. Conjoined twins are classified according to their symmetry, place of fusion, and grade of duplication. METHODS: We report here an extremely rare presentation of parasitic twins not described before. We describe macro and micro anatomic alterations and discuss the aspects of this peculiar presentation and the importance of prenatal diagnosis. RESULTS: The case of a twenty-three-year-old patient, with monochorionic, monoamniotic asymmetrically-conjoined twin pregnancy, discovered at 29 weeks of gestational age. We believe that this report calls attention to this presentation and the importance of prenatal care and management. The twins were delivered vaginally without life. The twins’ combined weight was 1.300 gr. They were bonded in the left cervical region. CONCLUSION: This report may help to find strategies for clinical decisions in future cases. Antepartum diagnosis is important to the management, preoperative planning, and outcomes. Prenatal imaging exams like echocardiography, CT, MRI, and ultrasonography are feasible and can provide relevant information about malformation severity and prognosis.


2014 ◽  
Vol 40 (1) ◽  
pp. 73-78 ◽  
Author(s):  
Alan M. Coleman ◽  
Maria A. Calvo-Garcia ◽  
Andrew M. Zbojniewicz ◽  
Maria Alonso ◽  
Foong-Yen Lim

Infantile myofibroma is the most common fibrous tumor in infancy. A majority of these lesions are solitary and occur in the head and neck region. Unless visceral sites are involved, the clinical course is typically benign. However, the difficulty in these cases is the differentiation of a benign myofibroma from a solitary malignant neoplasm and determination of visceral involvement. Prenatal diagnosis of this condition is rarely described in the literature, but it does indeed have a role in perinatal management. Our patient was initially identified by prenatal ultrasound with fetal MRI for further characterization of the mass. We present the case of a prenatally diagnosed solitary infantile myofibroma of the lower extremity and highlight the role of prenatal imaging in the diagnosis and treatment of this condition.


Haemophilia ◽  
2001 ◽  
Vol 7 (4) ◽  
pp. 416-418 ◽  
Author(s):  
M. Acquila ◽  
F. Bottini ◽  
A. Valetto ◽  
D. Caprino ◽  
P. G. Mori ◽  
...  

2004 ◽  
Vol 171 (4S) ◽  
pp. 49-49
Author(s):  
Boris Chertin ◽  
Ron Rabinowitz ◽  
Avner Polak ◽  
Irit Hadas-Halpren ◽  
Amicur Farkas
Keyword(s):  

1996 ◽  
Vol 75 (03) ◽  
pp. 525-526 ◽  
Author(s):  
M C Alessi ◽  
M F Aillaud ◽  
O Paut ◽  
B Roquelaure ◽  
M Alhenc-Gelas ◽  
...  

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