tailieunhanh - Báo cáo y học: "Tetralogy of Fallot associated with macrocephaly-capillary malformation syndrome: a case report and review of the literature"

Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: Tetralogy of Fallot associated with macrocephaly-capillary malformation syndrome: a case report and review of the literature | JOURNAL OF MEDICAL Sr CASE REPORTS Open Access Case report Tetralogy of Fallot associated with macrocephaly-capillary malformation syndrome a case report and review of the literature Jesus E Duenas-Arias11 Eliakym Arambula-Meraz21 Luis O Frias-Castro1 Rosalio Ramos-Payán2 Jose A Quibrera-Matienzo1 Fred Luque-Ortega2 and E Maribel Aguilar-Medina2 Addresses 1Departamento de Genética Hospital Pediátrico de Sinaloa Culiacán Sinaloa Mexico 2Posgrados en Biotecnología y Ciencias Biomédicas Facultad de Ciencias Químico Biológicas Universidad Autónoma de Sinaloa Culiacán Sinaloa Mexico Email JEDA - jedanet@ EAM - eliakymarambula@ LOFC - lofc57@ RRP - ramospayan@ JAQM - jedanet@ FLO - fredluque1@ EMAM - maribela2@ Corresponding author Equal contribution Received 16 January 2009 Accepted 8 May 2009 Published 8 September 2009 Journal of Medical Case Reports 2009 3 9215 doi 1752-1947-3-9215 This article is available from http jmedicalcasereports article view 9215 2009 Duenas-Arias et al. licensee Cases Network Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License http licenses by which permits unrestricted use distribution and reproduction in any medium provided the original work is properly cited. Abstract Introduction Macrocephaly-capillary malformation syndrome is characterized by cutaneous vascular lesions including cutis marmorata telangiectatica and hemangiomas associated with congenital anomalies including macrocephaly macrosomia asymmetry and mental retardation. In addition to these cardinal signs several other clinical conditions have been reported in people with this condition. However to the best of our knowledge the presence of tetralogy of Fallot has not previously been reported in association with this syndrome. Case presentation We present a case of a Mexican newborn girl with .