Prenatal diagnosis of proximal focal femoral deficiency: Literature review of prenatal sonographic findings

Autor: Valentina, D'Ambrosio, Gaia, Pasquali, Antonia, Squarcella, Eleonora, Marcoccia, Angela, De Filippis, Silvia, Gatto, Aliberti, Camilla, Antonio, Pizzuti, Renato, La Torre, Antonella, Giancotti

Proximal focal femoral deficiency (PFFD) is a rare musculoskeletal malformation that occurs in 0.11-0.2 per 10,000 live births. This congenital anomaly involves the pelvis and proximal femur with widely variable manifestations, from mild femoral shor

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::6168b5596d09c887dbd75e78cc6b90a0
http://hdl.handle.net/11573/856698

Comparison of ultrasound and magnetic resonance imaging in the prenatal diagnosis of Apert syndrome: report of a case

Autor: Giancotti, Antonella, D'Ambrosio, Valentina, DE FILIPPIS, Angela, Aliberti, Camilla, Pasquali, Gaia, Bernardo, Silvia, Manganaro, Lucia, Polimeni, Antonella, Pizzuti, Antonio, Cascone, Piero, Silvestri, Alessandro, Roggini, Mario, Tarani, Luigi, Papoff, Paola, Castori, Marco, Lenzi, Jacopo

Publikováno v: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery. 30(8)

The birth prevalence of Apert syndrome is estimated at 1:64,500 and accounts for about 4.5 % of all craniosynostosis with a male/female ratio equal to 1:1. It is associated to allelic mutations in the fibroblast growth factor receptor 2 (FGFR2) gene.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::613b66bb3f67b4b821fe555d1aa878a6
https://pubmed.ncbi.nlm.nih.gov/24566675

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Bilateral subependymal heterotopia, ventriculomegaly and cerebellar asymmetry: fetal MRI findings of a rare association of brain anomalies.

Autor: Manganaro L; Department of Radiological, Oncological and Anatomopathological Sciences, Umberto I Hospital, Sapienza University of Rome, Rome, Italy., Saldari M; Department of Radiological, Oncological and Anatomopathological Sciences, Umberto I Hospital, Sapienza University of Rome, Rome, Italy., Bernardo S; Department of Radiological, Oncological and Anatomopathological Sciences, Umberto I Hospital, Sapienza University of Rome, Rome, Italy., Aliberti C; Department of Obstetrics, Gynecology and Urologic Sciences, Umberto I Hospital, Sapienza University of Rome, Rome, Italy., Silvestri E; Surgical Pathology Unit, San Camillo Forlanini Hospital, Rome, Italy.

Publikováno v: Journal of radiology case reports [J Radiol Case Rep] 2013 Nov 01; Vol. 7 (11), pp. 38-45. Date of Electronic Publication: 2013 Nov 01 (Print Publication: 2013).