Meier-Gorlin syndrome.
Meier-Gorlin syndrome.
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DOI：
10.1186/s13023-015-0322-x
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发表时间：
2015-09-17
影响因子：
3.7
通讯作者：
Bongers EM
中科院分区：
文献类型：
--
作者：
de Munnik SA;Hoefsloot EH;Roukema J;Schoots J;Knoers NV;Brunner HG;Jackson AP;Bongers EM
Meier-Gorlin综合征(MGS)是一种罕见的常染色体隐性遗传性原始侏儒症，以小耳垂、膝盖骨平展/发育不全和身材矮小为特征。相关的临床特征包括喂养问题，先天性肺气肿，女性乳腺发育不良，以及泌尿生殖系统异常，如隐睾症和小阴唇和大阴唇发育不良。儿童时期典型的面部特征包括嘴唇丰满的小嘴巴和微小的后下颌。随着年龄的增长，窄而凸出的鼻子变得更加突出。小耳畸形、膝盖骨异常、出生前后发育迟缓这三个临床特征中至少有两个特征的患者应考虑诊断为MGS。对于身材矮小和/或小耳畸形的患者，在6岁之前应仔细进行超声检查，或在6岁后进行放射检查。参与DNA复制的复制前复合体的五个基因(ORC1、ORC4、ORC6、CDT1和CDC6)中的一个基因突变在大约67%-78%的MGS患者中被检测到。ORC1和ORC4突变的患者似乎具有最严重的矮小和小头畸形。管理应针对相关问题的深入调查、治疗和预防，如生长迟缓、喂养问题、听力损失、髌骨脱位、膝关节疼痛、膝关节炎，以及因先天性肺气肿伴或不伴支气管软化症或喉软化症而可能引起的肺部并发症。生长激素治疗对大多数MGS患者无效，但对出生一年后生长继续减慢(通常第一年后生长速度正常化)和IGF1水平较低的患者可能有效。目前，关于患有MGS的女性生育的数据很少，但早产的风险可能会增加。在这里，我们建议以经验为基础的指导方针，以定期护理和治疗MGS患者。本文的在线版本(doi：10.1186/s13023-0150322-x)包含补充材料，授权用户可以使用。
Meier-Gorlin syndrome (MGS) is a rare autosomal recessive primordial dwarfism disorder, characterized by microtia, patellar applasia/hypoplasia, and a proportionate short stature. Associated clinical features encompass feeding problems, congenital pulmonary emphysema, mammary hypoplasia in females and urogenital anomalies, such as cryptorchidism and hypoplastic labia minora and majora. Typical facial characteristics during childhood comprise a small mouth with full lips and micro-retrognathia. During ageing, a narrow, convex nose becomes more prominent. The diagnosis MGS should be considered in patients with at least two of the three features of the clinical triad of microtia, patellar anomalies, and pre- and postnatal growth retardation. In patients with short stature and/or microtia, the patellae should be assessed with care by ultrasonography before age 6 or radiography thereafter. Mutations in one of five genes (ORC1, ORC4, ORC6, CDT1, and CDC6) of the pre-replication complex, involved in DNA-replication, are detected in approximately 67-78 % of patients with MGS. Patients with ORC1 and ORC4 mutations appear to have the most severe short stature and microcephaly. Management should be directed towards in-depth investigation, treatment and prevention of associated problems, such as growth retardation, feeding problems, hearing loss, luxating patellae, knee pain, gonarthrosis, and possible pulmonary complications due to congenital pulmonary emphysema with or without broncho- or laryngomalacia. Growth hormone treatment is ineffective in most patients with MGS, but may be effective in patients in whom growth continues to decrease after the first year of life (usually growth velocity normalizes after the first year) and with low levels of IGF1. At present, few data is available about reproduction of females with MGS, but the risk of premature labor might be increased. Here, we propose experience-based guidelines for the regular care and treatment of MGS patients. The online version of this article (doi:10.1186/s13023-015-0322-x) contains supplementary material, which is available to authorized users.