Systemic and maxillofacial characteristics of eleven Japanese children with Russell–Silver syndrome.
Systemic and maxillofacial characteristics of eleven Japanese children with Russell–Silver syndrome.
复制标题
11名日本Russell儿童的全身及颌面特征
DOI：
10.1111/cga.12162
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发表时间：
2016
期刊：
影响因子：
--
通讯作者：
Moriyama K.
中科院分区：
文献类型：
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作者：
Sato C;Ogawa T;Tsuge R;Shiga M;Tsuji M;Baba Y;Kosaki K;Moriyama K.
Russell-Silver综合征（RSS）是一种先天性异常，其特征为宫内和出生后生长迟缓、典型的面部特征、无名指弯曲和骨骼不对称。虽然宫内和出生后生长迟缓的数据已被报道，有几个报告有关的典型颌面部形态的个人与RSS。本研究的目的是描述这种全身性疾病的细节，并根据11例日本RSS患者（年龄范围，3.9-12.0岁）的头颅X线片描述颌面部形态。所有11个人都有宫内和产后生长迟缓。此外，大多数表现为下颌后缩和相对的大头畸形。头颅侧位片测量显示下颌后缩是由于下颌体长度过短所致，而颅底深度接近正常。虽然大多数人的手、脚和肢体长度不对称，但面部明显不对称并不常见。没有观察到左右骨骼和牙龄之间的差异，这表明RSS儿童可能因骨骼生长的数量差异而表现出不对称性，而不是生长速度延迟。我们的研究结果不仅提供了有关RSS颌面部特征的重要信息，而且有助于澄清这些特征与遗传学之间的关联，这将增加临床症状的信息。
Russell–Silver syndrome (RSS) is a congenital anomaly characterized by intrauterine and postnatal growth retardation, typical facial features, fifth‐finger clinodactyly, and skeletal asymmetry. Although data on intrauterine and postnatal growth retardation have been reported, there are few reports concerning the typical maxillofacial morphology in individuals with RSS. The aim of this study was to describe the details of this systemic condition and to characterize maxillofacial morphology based on cephalograms in 11 Japanese patients (age range, 3.9–12.0 years) with RSS. All 11 individuals had intrauterine and postnatal growth retardation. In addition, most showed mandibular retrognathia and relative macrocephaly. Lateral cephalogram measurements showed that mandibular retrognathia resulted from short mandibular body length, whereas the depth of the cranial base was close to normal. Although asymmetry of hand, foot, and limb length were present in most individuals, obvious facial asymmetry was not common. Differences between left and right skeletal and dental age were not observed, indicating that children with RSS might show asymmetry because of quantitative differences in skeletal growth rather than delayed growth rate. Our findings not only provide important information about the maxillofacial characteristics of RSS, but also help to clarify the association between these characteristics and genetics, which will add to the body of information on clinical symptoms.