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肺静脉与肺泡毛细血管发育不良的错位:受累同胞及可变的表型表达。

Misalignment of pulmonary veins with alveolar capillary dysplasia: affected siblings and variable phenotypic expression.

作者信息

Boggs S, Harris M C, Hoffman D J, Goel R, McDonald-McGinn D, Langston C, Zackai E, Ruchelli E

机构信息

Division of Neonatology, University of Pennsylvania School of Medicine, Philadelphia.

出版信息

J Pediatr. 1994 Jan;124(1):125-8. doi: 10.1016/s0022-3476(94)70267-5.

DOI:10.1016/s0022-3476(94)70267-5
PMID:8283361
Abstract

Misalignment of pulmonary veins with alveolar capillary dysplasia is recognized as a rare cause of persistent pulmonary hypertension of the neonate. Until now, misalignment of pulmonary veins was thought to be a random occurrence, but its appearance in siblings at our institution suggests that there may be a familial predisposition. There have been reports of variable expression and variable severity in this disease; our report describes this variability in family members.

摘要

肺静脉与肺泡毛细血管发育异常的错位被认为是新生儿持续性肺动脉高压的一种罕见病因。直到现在,肺静脉错位一直被认为是一种随机发生的情况,但在我们机构中其在兄弟姐妹中的出现提示可能存在家族易感性。关于这种疾病存在可变表达和可变严重程度的报道;我们的报告描述了家庭成员中的这种变异性。

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