Child Developmental Center, Rishon Lezion Maccabi Health Services, Wolfson Medical Center, Holon, Israel.
Eur J Paediatr Neurol. 2012 Jan;16(1):95-8. doi: 10.1016/j.ejpn.2011.05.009. Epub 2011 Jul 12.
Silver-Russell syndrome (SRS) is a heterogeneous syndrome which is characterized by severe intrauterine and postnatal growth retardation and typical dysmorphic features. In 5-10% of SRS patients, a maternal uniparental disomy of chromosome 7 (UPD7) can be detected. We describe a 4.5-y old boy. Physical examination at the age of 4.5 y was remarkable for small stature, relatively big head, triangular face, broad forehead, pointed chin and clinodactyly. He had hypopigmented macules on his back with no evidence of asymmetry/hemihypertrophy. Clinical diagnosis of Silver-Russell syndrome was made. Maternal UPD of chromosome 7 was found, confirming the diagnosis. Along with the clinical findings that are described in this syndrome he had moderate developmental delay which is not commonly found in these patients and underwent an autistic regression around the age of 2 years. This association has only once been described before in this syndrome. A possible explanation is that the autism is not a part of SRS but is due to the UPD. Our case suggests an association of autistic regression with a locus on chromosome 7.
银-罗素综合征（SRS）是一种异质性综合征，其特征是严重的宫内和产后生长迟缓以及典型的发育异常。在 5-10%的 SRS 患者中，可以检测到 7 号染色体（UPD7）的母体单亲二体性。我们描述了一个 4.5 岁的男孩。4.5 岁时的体格检查显著为身材矮小，相对大头，三角脸，宽额头，尖下巴和指（趾）弯曲。他的背部有色素减退的斑点，但没有不对称/偏身肥大的证据。临床诊断为银-罗素综合征。发现了母亲的 7 号染色体 UPD，证实了诊断。除了该综合征中描述的临床发现外，他还存在中度发育迟缓，这在这些患者中并不常见，并且在 2 岁左右出现自闭症退行。这种关联以前仅在该综合征中描述过一次。一种可能的解释是自闭症不是 SRS 的一部分，而是由于 UPD。我们的病例提示自闭症退行与 7 号染色体上的一个基因座有关。
