Varma Sapna N K, Varma Balagopal R
Department of Orthodontics and Dentofacial Orthopaedics, Amrita School of Dentistry, Kochi, Kerala, India.
Contemp Clin Dent. 2013 Jul;4(3):363-5. doi: 10.4103/0976-237X.118346.
Silver - Russell syndrome is a clinically and genetically heterogenous condition characterized by severe intrauterine and postnatal growth retardation, craniofacial disproportion and normal intelligence downward curvature of the corner of the mouth, syndactyly and webbed fingers. Diagnosis of Silver - Russell syndrome remains clinical; no definite etiology or specific tests have been established. In the recent years, it has been shown that more than 38% of patients have hypomethylation in the imprinting control region 1 of 11p15 and one-tenth of patients carry a maternal uniparental disomy of chromosome seven. The pathophysiological mechanisms resulting in the Silver - Russell phenotype remain unknown despite the recent progress in deciphering the molecular defects associated with this condition. This case report describes the clinical features of Silver - Russell syndrome in a father and daughter.
Silver-Russell综合征是一种临床和遗传异质性疾病，其特征为严重的宫内和出生后生长迟缓、颅面比例失调、智力正常、嘴角向下弯曲、并指（趾）和蹼状指。Silver-Russell综合征的诊断仍基于临床；尚未确定明确的病因或特异性检测方法。近年来，研究表明超过38%的患者在11p15的印记控制区1存在低甲基化，十分之一的患者携带母源性7号染色体单亲二倍体。尽管在解读与该疾病相关的分子缺陷方面取得了最新进展，但导致Silver-Russell表型的病理生理机制仍不清楚。本病例报告描述了一对父女患Silver-Russell综合征的临床特征。
