Literature DB >> 8034288

Post-axial hexodactily and single atrium: a new syndrome?

T Onat1.   

Abstract

A 3 1/2 year old boy is presented with postaxial hexodactily in all extremities, a persisting large left vena cava superior (VCS) draining into the left part of a single atrium and a mild dextroversio cordis. All extra fingers and the lateral parts of the fused metatarsals were amputated. At age 10, the cardiovascular anomalies were surgically corrected successfully by separating the atrium with a pericardial patch and by draining the left VCS to the right atrium with a graft. The patient seems to represent a new syndrome, since the combination of postaxial hexodactily with single atrium had previously been observed by the author in another patient in 1970.

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Year:  1994        PMID: 8034288     DOI: 10.1007/bf02272854

Source DB:  PubMed          Journal:  Hum Genet        ISSN: 0340-6717            Impact factor:   4.132


  6 in total

1.  Syndrome of hexodactily and single atrium.

Authors:  T Onat
Journal:  Pediatr Cardiol       Date:  1998 Sep-Oct       Impact factor: 1.655

2.  Atrioventricular canal defect and postaxial polydactyly indicating phenotypic overlap of Ellis-van Creveld and Kaufman-McKusick syndromes.

Authors:  M C Digilio; B Marino; A Giannotti; B Dallapiccola
Journal:  Pediatr Cardiol       Date:  1997 Jan-Feb       Impact factor: 1.655

3.  Single atrium, atrioventricular canal/postaxial hexodactyly indicating Ellis-van Creveld syndrome.

Authors:  M C Digilio; B Marino; A Giannotti; B Dallapiccola
Journal:  Hum Genet       Date:  1995-08       Impact factor: 4.132

4.  Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome.

Authors:  Adrian Palencia-Campos; Phillip C Aoto; Erik M F Machal; Ana Rivera-Barahona; Patricia Soto-Bielicka; Daniela Bertinetti; Blaine Baker; Lily Vu; Francesca Piceci-Sparascio; Isabella Torrente; Eveline Boudin; Silke Peeters; Wim Van Hul; Celine Huber; Dominique Bonneau; Michael S Hildebrand; Matthew Coleman; Melanie Bahlo; Mark F Bennett; Amy L Schneider; Ingrid E Scheffer; Maria Kibæk; Britta S Kristiansen; Mahmoud Y Issa; Mennat I Mehrez; Samira Ismail; Jair Tenorio; Gaoyang Li; Bjørn Steen Skålhegg; Ghada A Otaify; Samia Temtamy; Mona Aglan; Aia E Jønch; Alessandro De Luca; Geert Mortier; Valérie Cormier-Daire; Alban Ziegler; Mathew Wallis; Pablo Lapunzina; Friedrich W Herberg; Susan S Taylor; Victor L Ruiz-Perez
Journal:  Am J Hum Genet       Date:  2020-10-14       Impact factor: 11.025

5.  Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene.

Authors:  Hakan Ulucan; Davut Gül; Julie C Sapp; John Cockerham; Jennifer J Johnston; Leslie G Biesecker
Journal:  BMC Med Genet       Date:  2008-10-23       Impact factor: 2.103

Review 6.  Cardiac Defects and Genetic Syndromes: Old Uncertainties and New Insights.

Authors:  Giulio Calcagni; Flaminia Pugnaloni; Maria Cristina Digilio; Marta Unolt; Carolina Putotto; Marcello Niceta; Anwar Baban; Francesca Piceci Sparascio; Fabrizio Drago; Alessandro De Luca; Marco Tartaglia; Bruno Marino; Paolo Versacci
Journal:  Genes (Basel)       Date:  2021-07-08       Impact factor: 4.096

  6 in total

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