Impact of genetics on the diagnosis and clinical management of syndromic craniosynostoses.
Impact of genetics on the diagnosis and clinical management of syndromic craniosynostoses.
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DOI：
10.1007/s00381-012-1756-2
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发表时间：
2012-09
期刊：
影响因子：
--
通讯作者：
Muenke M
中科院分区：
文献类型：
--
作者：
Agochukwu NB;Solomon BD;Muenke M
超过60种不同的突变已被确定为导致颅缝早闭综合征。这些突变大多发生在成纤维细胞生长因子受体2基因（FGFR 2）中。综合征性颅缝早闭的临床治疗根据特定的致病突变而变化。此外，综合征性颅缝早闭的诊断是基于临床表现、体征和症状。对特殊颅缝早闭综合征的标志性特征的了解有助于有效地诊断、治疗和长期预后。对综合征性颅缝早闭的主要形式和其他不太常见的FGFR相关综合征性颅缝早闭形式进行了全面的文献综述。此外，对我们自己的研究实验室（Muenke博士的实验室）进行的研究中收集的信息和数据进行了进一步分析和审查。本文还对颅缝早闭患者的遗传学检查和诊断进行了文献综述。Apert综合征（FGFR2突变导致的颅缝早闭综合征）患者在智力残疾、发育迟缓、中枢神经系统异常和肢体异常方面受到最严重的影响。所有患有FGFR相关综合征性颅缝早闭的患者都有一定程度的听力损失，需要进行彻底的初步评估和随后的随访。综合征型颅缝早闭患者需要管理和治疗的问题，涉及多个器官系统，跨越颅缝早闭。因此，对这些患者的有效护理需要多学科的方法。
More than 60 different mutations have been identified to be causal in syndromic forms of craniosynostosis. The majority of these mutations occur in the fibroblast growth factor receptor 2 gene (FGFR2). The clinical management of syndromic craniosynostosis varies based on the particular causal mutation. Additionally, the diagnosis of a patient with syndromic craniosynostosis is based on the clinical presentation, signs, and symptoms. The understanding of the hallmark features of particular syndromic forms of craniosynostosis leads to efficient diagnosis, management, and long-term prognosis of patients with syndromic craniosynostoses. A comprehensive literature review was done with respect to the major forms of syndromic craniosynostosis and additional less common FGFR-related forms of syndromic craniosynostosis. Additionally, information and data gathered from studies performed in our own investigative lab (lab of Dr. Muenke) were further analyzed and reviewed. A literature review was also performed with regard to the genetic workup and diagnosis of patients with craniosynostosis. Patients with Apert syndrome (craniosynostosis syndrome due to mutations in FGFR2) are most severely affected in terms of intellectual disability, developmental delay, central nervous system anomalies, and limb anomalies. All patients with FGFR-related syndromic craniosynostosis have some degree of hearing loss that requires thorough initial evaluations and subsequent follow-up. Patients with syndromic craniosynostosis require management and treatment of issues involving multiple organ systems which span beyond craniosynostosis. Thus, effective care of these patients requires a multidisciplinary approach.
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影响因子：
2
作者：
Abdel-Salam, Ghada M. H.;Flores-Sarnat, Laura;Temtamy, Samia A.
通讯作者：
Temtamy, Samia A.
影响因子：
0.9
作者：
Anderson, PJ;Hall, CM;Hayward, RD
通讯作者：
Hayward, RD
普法氏综合征更新、临床亚型和鉴别诊断指南
DOI：
10.1002/ajmg.1320450305
发表时间：
1993-02-01
期刊：
AMERICAN JOURNAL OF MEDICAL GENETICS
影响因子：
--
作者：
COHEN, MM
通讯作者：
COHEN, MM
DOI：
10.1002/ajmg.1320510208
发表时间：
1994-06-01
期刊：
AMERICAN JOURNAL OF MEDICAL GENETICS
影响因子：
--
作者：
ADES, LC;MULLAY, JC;HAAN, EA
通讯作者：
HAAN, EA
DOI：
10.1002/ajmg.1320470509
发表时间：
1993-10-01
期刊：
AMERICAN JOURNAL OF MEDICAL GENETICS
影响因子：
--
作者：
COHEN, MM;KREIBORG, S
通讯作者：
KREIBORG, S