Preaxial polydactyly of the foot: variable expression of trisomy 13 in a case from central Africa

Sébastien Mbuyi-Musanzayi; Aimé Lumaka; Bienvenu Yogolelo Asani; Toni Lubala Kasole; Prosper Lukusa Tshilobo; Prosper Kalenga Muenze; François Tshilombo Katombe; Koenraad Devriendt

doi:10.1155/2014/365031

Preaxial polydactyly of the foot: variable expression of trisomy 13 in a case from central Africa

Case Rep Genet. 2014:2014:365031. doi: 10.1155/2014/365031. Epub 2014 Sep 1.

Authors

Sébastien Mbuyi-Musanzayi¹, Aimé Lumaka², Bienvenu Yogolelo Asani³, Toni Lubala Kasole⁴, Prosper Lukusa Tshilobo², Prosper Kalenga Muenze⁵, François Tshilombo Katombe⁶, Koenraad Devriendt⁷

Affiliations

¹ Department of Surgery, University Hospital, University of Lubumbashi, P.O. Box 1825, Lubumbashi, Democratic Republic of Congo ; Center for Human Genetics, Faculty of Medicine, University of Lubumbashi, P.O. Box 1825, Lubumbashi, Democratic Republic of Congo.
² Center for Human Genetics, University Hospitals, KU Leuven, UZ Leuven, Campus Gasthuisberg, Herestraat 49, P.O. Box 602, 3000 Leuven, Belgium ; Department of Pediatrics, University Hospitals, University of Kinshasa, P.O. Box 123, Kin XI, Kinshasa, Democratic Republic of Congo.
³ Center for Human Genetics, Faculty of Medicine, University of Lubumbashi, P.O. Box 1825, Lubumbashi, Democratic Republic of Congo ; Department of Ophthalmology, University Hospital, University of Lubumbashi, P.O. Box 1825, Lubumbashi, Democratic Republic of Congo.
⁴ Center for Human Genetics, Faculty of Medicine, University of Lubumbashi, P.O. Box 1825, Lubumbashi, Democratic Republic of Congo ; Department of Pediatrics, University Hospital, University of Lubumbashi, P.O. Box 1825, Lubumbashi, Democratic Republic of Congo.
⁵ Center for Human Genetics, Faculty of Medicine, University of Lubumbashi, P.O. Box 1825, Lubumbashi, Democratic Republic of Congo ; Department of Gynecology, University Hospital, University of Lubumbashi, P.O. Box 1825, Lubumbashi, Democratic Republic of Congo.
⁶ Department of Surgery, University Hospital, University of Lubumbashi, P.O. Box 1825, Lubumbashi, Democratic Republic of Congo.
⁷ Center for Human Genetics, University Hospitals, KU Leuven, UZ Leuven, Campus Gasthuisberg, Herestraat 49, P.O. Box 602, 3000 Leuven, Belgium.

Abstract

Trisomy 13 is a chromosomal disorder characterized by a severe clinical picture of multiple congenital anomalies. We here describe the clinical and genetic features and prognosis observed in a newborn with trisomy 13 from Central Africa. He presented the rare feature of preaxial polydactyly of the feet.