Familial pulmonary arterial hypertension, leucopenia, and atrial septal defect: a probable new familial syndrome with multisystem involvement
Familial pulmonary arterial hypertension, leucopenia, and atrial septal defect: a probable new familial syndrome with multisystem involvement
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DOI：
10.1097/mcd.0b013e32831841f7
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发表时间：
2009-01-01
影响因子：
0.7
通讯作者：
Morse, Jane H.
中科院分区：
文献类型：
--
作者：
Dursun, Ali;Ozgul, R. Koksal;Morse, Jane H.
我们提出了两个具有相同临床表现的兄弟姐妹，这似乎代表了一种以前未报告的家族综合症。主要发现涉及三个系统：肺动脉高压、心脏异常（包括继发孔型房间隔缺损）以及伴有间歇性中性粒细胞减少、淋巴细胞减少、单核细胞增多和贫血的造血系统。这对兄妹也有一些共同的轻微异常：鸡胸、长手指、拇指近端、宽鼻梁和高拱腭。男性先证者还患有双侧腹股沟疝气和睾丸未降。两个兄弟姐妹的相同发现表明遗传原因——要么是常染色体隐性遗传病，要么是父母一方的生殖系嵌合体导致显性突变。调查显示，只有一名兄弟姐妹的内含子 4 存在骨形态发生蛋白受体 2 多态性，这种多态性也存在于未受影响的母系亲属中。 Clin Dysmorphol 18:19-23 (c) 2009 Wolters Kluwer Health 垂直栏 Lippincott Williams & Wilkins。
We present two siblings with identical clinical findings that seem to represent a previously unreported familial syndrome. Major findings involve three systems: pulmonary arterial hypertension, cardiac abnormalities including secundum-type atrial septal defect, and the hematopoietic system with intermittent neutropenia, lymphopenia, monocytosis, and anemia. The siblings also shared several minor abnormalities: pectus carinatum, long fingers, proximally placed thumb, broad nasal bridge, and high-arched palate. The male proband also had bilateral inguinal hernias and undescended testes. The same findings in two siblings suggest a genetic cause-either an autosomal recessive disorder or germline mosaicism in one parent for a dominant mutation. Investigations revealed a bone morphogenetic protein receptor 2 polymorphism in intron 4 in only one sibling, which was also present in unaffected maternal relatives. Clin Dysmorphol 18:19-23 (c) 2009 Wolters Kluwer Health vertical bar Lippincott Williams & Wilkins.