Etiological Heterogeneity and Clinical Characteristics of Metopic Synostosis: Evidence From a Tertiary Craniofacial Unit
Etiological Heterogeneity and Clinical Characteristics of Metopic Synostosis: Evidence From a Tertiary Craniofacial Unit
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DOI：
10.1002/ajmg.a.33435
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发表时间：
2010-06-01
影响因子：
2
通讯作者：
Wilkie, Andrew O. M.
中科院分区：
文献类型：
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作者：
Kini, Usha;Hurst, Jane A.;Wilkie, Andrew O. M.
异位性颅缝早闭 (MS) 约占所有颅缝早闭的 10-15%，并且病因不同。本研究旨在探讨多发性硬化症的病因，如在三级颅面科中观察到的那样。我们回顾了 1991 年至 2008 年间在牛津颅面科就诊的 110 名被诊断为多发性硬化症的儿童的病例记录。我们的结果显示，有 38 名儿童（38/110 或 34.6%）至少有一项额外的结构异常或具有已知的综合征诊断，被归类为患有综合征性多发性硬化症。 8/38 (21.4%) 儿童出现染色体异常：2 号染色体镶嵌标记、9p 缺失 (2/8)、11q 缺失、12pter 缺失以及 15q25 重复以及其他染色体异常 (3/8)。其他综合征诊断包括 Silver Russell 综合征和 Greig 头多指并指症。 8/110 名儿童 (7.8%) 发现产前接触过丙戊酸钠 (VPA)，所有病例中 VPA 的剂量均≥ 1,000 毫克/天。本研究报告的其他产前暴露包括：孕产妇糖尿病 (6/110)、用于高凝状态的依诺肝素 (1/110) 和甲状腺素 (1/110)。大多数患者（72/110 或 65.4%）患有非综合征型 MS。 11 名非综合征性 MS 儿童（11/72 或 15.3%）和 10 名综合征性 MS 儿童（10/38 或 26.3%）存在言语延迟。我们得出的结论是，大约三分之二的多发性硬化症是非综合征性的。产前接触 VPA 是 MS 的常见原因。 5.5% 的病例中发现母亲患有糖尿病，此前与多发性硬化症无关。染色体异常约占 MS 的 6%。无论是综合征型还是非综合征型，言语延迟的风险都会增加。 (C) 2010 Wiley-Liss, Inc.
Metopic synostosis (MS) accounts for approximately 10-15% of all craniosynostosis and is etiologically heterogeneous. This study aimed to examine the causes of MS, as observed in a tertiary craniofacial unit. We reviewed the case notes of 110 children with a diagnosis of MS, attending the craniofacial unit in Oxford between 1991 and 2008. Our results showed 38 children (38/110 or 34.6%) who had at least one additional structural abnormality or had a known syndromic diagnosis were classed as having syndromic MS. Chromosomal abnormalities were noted in 8/38 (21.4%) children: mosaic marker chromosome 2, 9p deletion (2/8), 11q deletion, 12pter deletion and duplication of 15q25 with other additional chromosomal abnormalities (3/8). Other syndromic diagnoses included Silver Russell syndrome and Greig cephalopolysyndactyly. Prenatal exposure to sodium valproate (VPA) was noted in 8/110 children (7.8%), with the dose of the VPA being >= 1,000 mg/day in all cases. Other prenatal exposures reported in this study were: maternal diabetes (6/110), enoxaparin for hypercoagulable state (1/110), and thyroxine (1/110). The majority of patients (72/110 or 65.4%) had nonsyndromic MS. Speech delay was present in 11 children with nonsyndromic MS (11/72 or 15.3%) and 10 children with syndromic MS (10/38 or 26.3%). We conclude that approximately two-thirds of all MS is nonsyndromic. Prenatal exposure to VPA is a common cause of MS. Maternal diabetes, not previously linked to MS, was noted in 5.5% of cases. Chromosomal abnormalities account for about 6% of MS. An increased risk of speech delay is seen with both the syndromic and nonsyndromic forms. (C) 2010 Wiley-Liss, Inc.