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University Of South Florida -- Tampa Library - One of the best experts on this subject based on the ideXlab platform.
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Rodriguez Rodriguez, Antonio
Digital Commons @ University of South Florida, 2021Co-Authors: Centro Asturiano De Tampa, University Of South Florida -- Tampa LibraryAbstract:Centro Asturiano membership record of Rodriguez Rodriguez, Antonio; Socio Number: 93532.https://digitalcommons.usf.edu/asturiano_membership/5406/thumbnail.jp
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Gonzalez Rodriguez, Aurora
Digital Commons @ University of South Florida, 2021Co-Authors: Centro Asturiano De Tampa, University Of South Florida -- Tampa LibraryAbstract:Centro Asturiano membership record of Gonzalez Rodriguez, Aurora; Socio Number: 1630.https://digitalcommons.usf.edu/asturiano_membership/3482/thumbnail.jp
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Rodriguez, Mercedes
Digital Commons @ University of South Florida, 2021Co-Authors: Centro Asturiano De Tampa, University Of South Florida -- Tampa LibraryAbstract:Centro Asturiano membership record of Rodriguez, Mercedes; Socio Number: 1613.https://digitalcommons.usf.edu/asturiano_membership/5238/thumbnail.jp
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Rodriguez, Rogelio
Digital Commons @ University of South Florida, 2021Co-Authors: Centro Asturiano De Tampa, University Of South Florida -- Tampa LibraryAbstract:Centro Asturiano membership record of Rodriguez, Rogelio; Socio Number: 10635.https://digitalcommons.usf.edu/asturiano_membership/5289/thumbnail.jp
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Rodriguez, Armando
Digital Commons @ University of South Florida, 2021Co-Authors: Centro Asturiano De Tampa, University Of South Florida -- Tampa LibraryAbstract:Centro Asturiano membership record of Rodriguez, Armando; Socio Number: 58758.https://digitalcommons.usf.edu/asturiano_membership/5058/thumbnail.jp
Centro Asturiano De Tampa - One of the best experts on this subject based on the ideXlab platform.
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Rodriguez Rodriguez, Antonio
Digital Commons @ University of South Florida, 2021Co-Authors: Centro Asturiano De Tampa, University Of South Florida -- Tampa LibraryAbstract:Centro Asturiano membership record of Rodriguez Rodriguez, Antonio; Socio Number: 93532.https://digitalcommons.usf.edu/asturiano_membership/5406/thumbnail.jp
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Gonzalez Rodriguez, Aurora
Digital Commons @ University of South Florida, 2021Co-Authors: Centro Asturiano De Tampa, University Of South Florida -- Tampa LibraryAbstract:Centro Asturiano membership record of Gonzalez Rodriguez, Aurora; Socio Number: 1630.https://digitalcommons.usf.edu/asturiano_membership/3482/thumbnail.jp
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Rodriguez, Mercedes
Digital Commons @ University of South Florida, 2021Co-Authors: Centro Asturiano De Tampa, University Of South Florida -- Tampa LibraryAbstract:Centro Asturiano membership record of Rodriguez, Mercedes; Socio Number: 1613.https://digitalcommons.usf.edu/asturiano_membership/5238/thumbnail.jp
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Rodriguez, Rogelio
Digital Commons @ University of South Florida, 2021Co-Authors: Centro Asturiano De Tampa, University Of South Florida -- Tampa LibraryAbstract:Centro Asturiano membership record of Rodriguez, Rogelio; Socio Number: 10635.https://digitalcommons.usf.edu/asturiano_membership/5289/thumbnail.jp
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Rodriguez, Armando
Digital Commons @ University of South Florida, 2021Co-Authors: Centro Asturiano De Tampa, University Of South Florida -- Tampa LibraryAbstract:Centro Asturiano membership record of Rodriguez, Armando; Socio Number: 58758.https://digitalcommons.usf.edu/asturiano_membership/5058/thumbnail.jp
E Simeonov - One of the best experts on this subject based on the ideXlab platform.
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acrofacial dysostosis type Rodriguez
American Journal of Medical Genetics Part A, 2005Co-Authors: Boyan Dimitrov, Irina Balikova, Nely Jekova, Lilija Vakrilova, J P Fryns, E SimeonovAbstract:The acrofacial dysostoses (AFD) are a clinically and causally heterogeneous group of conditions characterized by mandibulofacial dysostosis and a variety of limb anomalies. Several abnormalities affecting different internal organs and the central nervous system (CNS) have been described. Depending on the type of limb defects, two major groups have been delineated: (1) with predominantly pre-axial anomalies, Nager type AFD, and (2) with predominantly post-axial involvement, Genee-Wiedemann form of AFD, also known as POADS, respectively. Other forms of "true AFD" have been described as Kelly, Reynolds, Arens (also Tel Aviv form), Rodriguez (or Madrid form), Richieri-Costa, and Patterson-Stevenson-Fontaine types. However, whether they are distinct entities or represent variants of the same condition remains unclear. Rodriguez AFD was described as a new lethal form of AFD in three affected sibs with severe mandibular hypoplasia, severe predominantly pre-axial limb deficiencies, absent fibulae and ribs, and internal organ anomalies, the most remarkable of which are arrhinencephaly and abnormal lung lobulation. We present a newborn girl with Rodriguez type of AFD, who died a few days after the birth due to respiratory failure. The phenotype and the cause of this condition are discussed.
Boyan Dimitrov - One of the best experts on this subject based on the ideXlab platform.
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acrofacial dysostosis type Rodriguez
American Journal of Medical Genetics Part A, 2005Co-Authors: Boyan Dimitrov, Irina Balikova, Nely Jekova, Lilija Vakrilova, J P Fryns, E SimeonovAbstract:The acrofacial dysostoses (AFD) are a clinically and causally heterogeneous group of conditions characterized by mandibulofacial dysostosis and a variety of limb anomalies. Several abnormalities affecting different internal organs and the central nervous system (CNS) have been described. Depending on the type of limb defects, two major groups have been delineated: (1) with predominantly pre-axial anomalies, Nager type AFD, and (2) with predominantly post-axial involvement, Genee-Wiedemann form of AFD, also known as POADS, respectively. Other forms of "true AFD" have been described as Kelly, Reynolds, Arens (also Tel Aviv form), Rodriguez (or Madrid form), Richieri-Costa, and Patterson-Stevenson-Fontaine types. However, whether they are distinct entities or represent variants of the same condition remains unclear. Rodriguez AFD was described as a new lethal form of AFD in three affected sibs with severe mandibular hypoplasia, severe predominantly pre-axial limb deficiencies, absent fibulae and ribs, and internal organ anomalies, the most remarkable of which are arrhinencephaly and abnormal lung lobulation. We present a newborn girl with Rodriguez type of AFD, who died a few days after the birth due to respiratory failure. The phenotype and the cause of this condition are discussed.
Elaine H Zackai - One of the best experts on this subject based on the ideXlab platform.
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the final demise of Rodriguez lethal acrofacial dysostosis a case report and review of the literature
American Journal of Medical Genetics Part A, 2019Co-Authors: Theodore G Drivas, Jesse A Taylor, Elaine H ZackaiAbstract:We evaluated a newborn with acrofacial dysostosis in whom a clinical diagnosis of Nager syndrome was entertained. Radiographs revealed hypoplasia of the scapulae and bilateral humeroradial synostosis, with absent ulna on the left and hypoplastic ulna on the right. The finding of bilateral humeroradial synostosis had not been seen in cases of Nager syndrome before and we considered other diagnoses. Humeroradial synostosis has been found in three cases of acrofacial dysostosis Rodriguez type, a syndrome characterized by mandibular hypoplasia, upper and lower extremity phocomelia, and oligodactyly of the upper limbs. More recently, haploinsufficiency of the SF3B4 gene has been identified as the cause of both Nager and Rodriguez syndrome, leading many to believe that Rodriguez syndrome represents a more severe end of a Nager syndrome spectrum. An SF3B4 mutation was found in our patient, prompting a review of the previous known cases of Rodriguez syndrome, which revealed no clustering of SF3B4 mutations, and four cases of Rodriguez syndrome with mutations identical to those in cases of Nager syndrome. Rodriguez syndrome was previously thought of as a lethal acrofacial dysostosis distinct from Nager syndrome. A number of more mild cases, as well as our case, intermediate between the two phenotypes, illustrate that Rodriguez syndrome is a severe manifestation of Nager syndrome, and is not lethal with aggressive medical care.
