Skeletal dysplasia with bowing long bones: Proposed flowchart for prenatal diagnosis with case demonstration

Autor: Gabriele Tonni, Marcella Palmisano, Mario Lituania, Gianpaolo Grisolia, Ave Maria Baffico, Maria Paola Bonasoni, Pierpaolo Pattacini, Claudio De Felice, Edward Araujo Júnior

Publikováno v: Taiwanese Journal of Obstetrics & Gynecology, Vol 55, Iss 6, Pp 771-776 (2016)

Objective: Skeletal dysplasia with bowing long bones is a rare group of multiple characterized congenital anomalies. Materials and Methods: We introduce a simple, practical diagnostic flowchart that may be helpful in identifying the appropriate pathw

Externí odkaz: https://doaj.org/article/2418a01ca5374ee2a4b7e5172c9c86fe

Phenotype to genotype characterization by array-comparative genomic hydridization (a-CGH) in case of fetal malformations: A systematic review

Autor: E. Armbruster-Moraes, Ana Cristina Perez Zamarian, Rodrigo Ruano, Eduardo Felix Martins Santana, Edward Araujo Júnior, Marcella Palmisano, Alberto Borges Peixoto, Gabriele Tonni, Ana Carolina Rabachini Caetano

Publikováno v: Taiwanese Journal of Obstetrics & Gynecology, Vol 58, Iss 1, Pp 15-28 (2019)

The aim of the current review is to report a-CGH abnormalities identified in fetuses with prenatally diagnosed fetal malformations in whom a normal karyotype was diagnosed with conventional cytogenetic analysis.A systematic electronic search of datab

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3364edce5cf83e8848b078458be4737c
https://doi.org/10.1016/j.tjog.2018.11.003

408 kb 15q11.2 microduplication by array comparative genomic hybridization in a fetus presenting with exomphalos, micrognathia, tetralogy of Fallot and normal karyotype: A genetic counseling dilemma in paternal carrier status

Autor: Marcella Palmisano, Maria Paola Bonasoni, Viola Alesi, Gabriele Tonni, Maria Bellotti, Marta Bertoli

Publikováno v: Congenital Anomalies. 55:65-70

Exomphalos may be associated with chromosomal abnormalities and syndromes. Severe exomphalos (herniation of liver, midgut and spleen) associated with increased nuchal translucency was seen at first trimester screening test. Karyotype by chorionic vil

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::2c9d48bd791702f9b0e14ce97ab9cc97
https://doi.org/10.1111/cga.12078

Neurological Outcome in Fetuses with Mild and Moderate Ventriculomegaly

Autor: Edward Araujo Júnior, Marcella Palmisano, Wellington P. Martins, Gabriele Tonni, Ida Vito

Publikováno v: Revista Brasileira de Ginecologia e Obstetrícia v.38 n.9 2016
Revista brasileira de ginecologia e obstetrícia
Federação Brasileira das Sociedades de Ginecologia e Obstetrícia (FEBRASGO)
instacron:FEBRASGO
Revista Brasileira de Ginecologia e Obstetrícia, Vol 38, Iss 9, Pp 436-442 (2016)

Introduction Ventriculomegaly (VM) is one the most frequent anomalies detected on prenatal ultrasound. Magnetic resonance imaging (MRI) may enhance diagnostic accuracy and prediction of developmental outcome in newborns. Purpose The aim of this study

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55794da83ab1df198b36254a290e0349
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0100-72032016000900436

Skeletal dysplasia with bowing long bones: Proposed flowchart for prenatal diagnosis with case demonstration

Autor: Edward Araujo Júnior, Gianpaolo Grisolia, Pierpaolo Pattacini, Maria Paola Bonasoni, Claudio De Felice, Ave Maria Baffico, Gabriele Tonni, Marcella Palmisano, Mario Lituania

Publikováno v: Taiwanese Journal of Obstetrics & Gynecology, Vol 55, Iss 6, Pp 771-776 (2016)

Objective Skeletal dysplasia with bowing long bones is a rare group of multiple characterized congenital anomalies. Materials and Methods We introduce a simple, practical diagnostic flowchart that may be helpful in identifying the appropriate pathway

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe7caec75188abfb9e6edf379c181797
https://pubmed.ncbi.nlm.nih.gov/28040117