2014, Number 1
Finding of Polydactyly and Syndactyly in an Eight-week Human Embryo. A Case Report
Language: Spanish
References: 12
Page: 125-129
PDF size: 199.30 Kb.
ABSTRACT
The case of a human embryo at Carnegie stage 23 (eighth weeks), which belongs to the collection of embryos of the Faculty of Medicine in Villa Clara is presented. It was the result of the elective termination of pregnancy using misoprostol in a 41-year-old woman with 9.6 weeks of amenorrhea and a history of good health. The aim of this paper is to inform the diagnostic finding of polydactyly and syndactyly in a stage as early as the eighth week of development. Basic and clinical aspects of both malformations are described and the finding is shown through digital images. The importance of the morphological study of these products is emphasized, which would provide value judgments to genetic counselling in future pregnancies.REFERENCES
Delgado Díaz OL, Lantigua A, Cruz Martínez G, Díaz Fuentes C, Berdasquera Corcho D, Rodríguez Pérez S. Prevalencia de defectos congénitos en recién nacidos. Rev Cubana Med Gen Integr [revista en Internet]. 2007 [ cited 19 May 2012 ] ; 23 (3): [aprox. 12p]. Available from: http://bvs.sld.cu/revistas/mgi/vol23_3_07/mgi073 07.htm.
Gómez García ML, Rosales del Pino AM, Cruz Hernández I, Licourt Otero D. La embriología en los defectos congénitos de las extremidades: un enfoque genético [Internet]. La Habana: CENCOMED; 2012. [ cited 10 Feb 2013 ] Available from: http://www.morfovirtual2012.sld.cu/index.php/mo rfovirtual/2012/paper/view/174/255.
Wieczorek D, Pawlik B, Li Y, Akarsu NA, Caliebe A, May KJ, et al. A specific mutation in the distant sonic hedgehog (SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb. Hum Mutat. 2010 ; 31 (1): 81-9.
Callen PW. Ecografía en Obstetricia y Ginecología [Internet]. 5ta. ed. Madrid: Elsevier Masson; 2009. [ cited 12 Dic 2012 ] Available from: http://books.google.com.cu/books?id=bQXWSrxi4 0AC&pg=PA443&lpg=PA443&dq=diagnóstico ecográfico de polidactilia y sindactilia&source=bl&ots=yfaaSq6_R8&sig=WJ mPe_1IMYBo4VFk58mhcV7J4T4#v=onepage&q= diagnóstico ecográfico de polidactilia y sindactilia&f=false.