In Marfan syndrome, fibrillin-1 is either dysfunctional or less abundant.

在马方综合征的患者体内，原纤蛋白发生功能障碍或不足。

The most obvious physical features of Marfan syndrome involve the skeleton.

马方综合征最明显的身体特征累及骨骼。

The most serious features, though, of Marfan syndrome are cardiovascular.

马方综合征最严重的特征是累及心血管。

Marfan syndrome is caused by mutations in a gene called FBN1, or fibrillin 1, on chromosome 15.

马方综合征是由于15号染色体上FBN1（原纤蛋白1）基因突变所致。

Golesworthy has Marfan syndrome, a genetic condition affecting the strength and elasticity of connective body tissues, including blood vessels.

高尔斯沃西患有马凡氏综合症，这是一种影响结缔组织（包括血管）强度和弹性的遗传病。

Occasionally, though, features are present at birth, called early-onset or neonatal Marfan syndrome.

有时，这些症状也可在出生时就表现出来，我们称之为“早发性马方综合征”或“新生儿马方综合征”。

The features of Marfan syndrome, though, might not be present for everyone with Marfan syndrome, and any given feature can be more or less severe.

这些马方综合征的临床特征并不一定会在每个患者身上发生，以上的各种特征也可轻可重。

Now, although there is no cure for Marfan syndrome but there are treatments for some of the clinical features.

尽管目前仍未有治疗马方综合征的方法，但是有一些针对这些临床表现的治疗。

Also, Marfan syndrome isn't usually noticeable at birth, so the symptoms show up over time as the child grows.

此外，马方综合征通常在出生时不易被发现，这些症状会随着孩子长大而逐渐出现。

Finally, Marfan syndrome is a risk factor for mitral valve prolapse, where the mitral valve pouches into the left atrium during systole.

最后，马方综合征也是二尖瓣脱垂的一个危险因素，即二尖瓣在收缩期时突向左心房。

Because finding out about Marfan syndrome is giving me opportunities That I don't think basketball would have granted me in my life. Like what?

因为诊断出马方综合征，反而给予我很多很多机会这些机会是篮球无法提供的。比如？

All right, as a quick recap - Marfan syndrome is an autosomal dominant genetic disorder caused by mutations in the FBN1 gene.

得！快速回顾一下：马方综合征是一种由FBN1基因突变造成的常染色体显性遗传病。

As for diagnosis, a person is diagnosed with Marfan syndrome if they have clinical features of Marfan syndrome like aortic disease, a dislocated lens, family history, and FBN1 mutations.

在诊断方面，要确诊马方综合征可通过以下方法：患者有明显的马方综合征临床特征，比如主动脉疾病、晶状体脱垂、家族史以及FBN1基因突变。

In the eyes, Marfan syndrome is a risk factor for retinal detachment and a dislocation of the lens, which is usually in an upward direction.

在眼部症状上，马方综合征是视网膜剥离、晶状体脱位的危险因素，通常是向上脱位。

In the skin, Marfan syndrome can cause stretch marks, and in the lung it can cause bullae to form, which are large spaces that replace the normal architecture of the lungs and can cause a pneumothorax to form.

马方综合征在皮肤上表现为皮纹，在肺上表现为肺大疱形成；肺大疱巨大的体积占据了肺的正常结构，也可能引起气胸。