Unidad de Genética Médica, Departamento de Puericultura y Pediatría, Universidad de Los Andes, Mérida, Venezuela.
Unidad de Odontología, Bambino Gesù Children's Hospital, IRCCS, Roma, Italia.
Arch Argent Pediatr. 2020 Jun;118(3):e258-e264. doi: 10.5546/aap.2020.eng.e258.
Silver-Russell syndrome is characterized by asymmetrical intrauterine growth retardation, with normal head circumference and small, pointed chin, which results in a triangular face. It can also include body asymmetry, among other characteristics. Its global incidence is estimated at 1 in 30 000-100 000 births, even though this figure may be underestimated. In approximately 60 % of cases, a molecular cause can be identified, and the main one is hypomethylation of the paternal allele at the imprinting control region 1 located at 11p15.5-p15.4. It is necessary to make the diagnosis of this entity, exclude differential diagnoses, and know (epi)genotype-phenotype correlations in order to ensure an adequate follow-up, provide available therapeutic options, and offer a timely family genetic counseling. The objective of this article is to describe the current status of the Silver-Russell syndrome, a model of genomic imprinting disorder.
银-鲁综合征的特征为宫内生长不对称性迟缓，头围正常而小下颌、尖下巴，导致三角脸。还可能包括身体不对称等特征。其全球发病率估计为每 3 万至 10 万活产儿中出现 1 例，但该数字可能被低估。约 60%的病例可识别出分子病因，主要为位于 11p15.5-p15.4 的印迹控制区 1 父等位基因低甲基化。需要诊断这种疾病，排除鉴别诊断，并了解（表）基因型-表型相关性，以便确保进行充分的随访，提供可用的治疗选择，并及时进行家族遗传咨询。本文的目的是描述银-鲁综合征的现状，这是一种基因组印迹障碍的模型。
