Pachajoa Harry
Centro de Investigaciones en Anomalías Congénitas y Enfermedades Raras, Universidad Icesi, Cali, Colombia.
Arch Argent Pediatr. 2013 Jul-Aug;111(4):e101-4. doi: 10.5546/aap.2013.e101.
We report the case of a newborn girl with a double trisomy, with a chromosome complement 48,XXX,+18, with Edwards syndrome phenotype (trisomy 18). The clinical feature included intrauterine growth retardation, dysmorphic facies, hand with overlapping fingers, ventricular septal defect, pulmonary stenosis and left clubfoot. A review of the literature and discussion of previously reported cases is made.
我们报告了一例患有双重三体综合征的新生儿女孩，其染色体核型为48,XXX,+18，具有爱德华兹综合征（18三体综合征）的表型。临床特征包括宫内生长迟缓、面部畸形、手指重叠的手、室间隔缺损、肺动脉狭窄和左足内翻。本文对相关文献进行了综述，并对先前报道的病例进行了讨论。
