Evolving phenotype of Marfan's syndrome
Evolving phenotype of Marfan's syndrome
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DOI：
10.1136/adc.76.1.41
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发表时间：
1997-01-01
影响因子：
5.2
通讯作者：
Harris, R
中科院分区：
文献类型：
--
作者：
Lipscomb, KJ;ClaytonSmith, J;Harris, R
目的-为了检查马凡氏综合征的身体特征在整个childhood.Methods-40名儿童的演变过程中确定了马凡氏综合征的区域注册的发展。通过对10例散发性马凡氏综合征患者和30例有家族病史的患者进行重复评估，确定了临床特征的演变。DNA标记研究被用来帮助诊断家族性疾病。结果-肌肉骨骼特征占主导地位，并在整个童年时期的演变。基因追踪使早期诊断的儿童与家族性马凡氏syndrome. Conclusions，这些意见可能有助于临床诊断的马凡氏综合征在儿童时期，特别是在那些散发的条件。基因追踪在家族性马凡氏综合征的早期诊断中发挥作用，允许适当的随访和预防护理。
Aim-To examine evolution of the physical characteristics of Marfan's syndrome throughout childhood.Methods-40 children were ascertained during the development of a regional register for Marfan's syndrome. Evolution of the clinical characteristics was determined by repeat evaluation of 10 patients with sporadic Marfan's syndrome and 30 with a family history of the condition. DNA marker studies were used to facilitate diagnosis in those with the familial condition. Results-Musculoskeletal features predominated and evolved throughout childhood. Gene tracking enabled early diagnosis in children with familial Marfan's syndrome.Conclusions-These observations may aid the clinical diagnosis of Marfan's syndrome in childhood, especially in those with the sporadic condition. Gene tracking has a role in the early diagnosis of familial Marfan's syndrome, allowing appropriate follow up and preventive care.