Pigeon Oliveros H, Pérez Treviño C, Rodríguez García I
Bol Med Hosp Infant Mex. 1979 Jan-Feb;36(1):135-47.
The study included six infants and one adult of congenital cardiovascular anomalies and malformations of the osseum system. In three cases with family pedigree studied, an autosomal dominant character was found; all of them had interauricular defect septum and characteristic congenital deformities of the thumb with polydactyly and one with affection in upper and lower extremities. In the other four patients without family study, interauricular septal defect and transposition of vessels was proved; the osseum malformations were radium agenesia, polydactyly and thumb agenesia. The importance of the genes and the environmental participation and etiopathogenic mechanism are discussed. The prognostic is focussed within type and severity of the congenital cardiac defect; in this study, two infants died within 3 and 7 months of heart failure. These congenital malformations were proved to have autosomal dominant inheritance; we recommend the familial study in all these cases.
该研究纳入了6名患有先天性心血管异常和骨骼系统畸形的婴儿以及1名成人。在对3例有家族谱系研究的病例中，发现其具有常染色体显性特征；他们均有房间隔缺损以及伴有多指畸形的拇指特征性先天性畸形，其中1例还伴有上下肢病变。在另外4例未进行家族研究的患者中，证实存在房间隔缺损和血管转位；骨骼畸形为桡骨发育不全、多指畸形和拇指发育不全。文中讨论了基因、环境因素的参与情况以及发病机制。预后主要关注先天性心脏缺陷的类型和严重程度；在本研究中，2名婴儿在3至7个月内因心力衰竭死亡。这些先天性畸形被证实具有常染色体显性遗传；我们建议对所有这些病例进行家族研究。
